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COHG-SA

Variant Detail

RSIDHGVSChromosomeStart PositionStop PositionAssociated Genes(s)Mutation TypeReferenceAlternativeAssociated AlleleAssociated African
Allele Frequency		ConsequenceOther Population Allele
Frequencies Link		Number of studies
finding significant variants
- ENSP00000296795.2:p.Ser339ProfsTer16 4 187003852 187003852 TLR3 InDel AT A A- Frameshift mutation ALFA -0
- ENSP00000296795.2:p.Trp769Ter 4 187005146 187005146 TLR3 SNP G A A- Non sense ALFA -0
- ENSP00000296795.2:p.Met870Val 4 187005920 187005920 TLR3 SNP A G G- Missense Variant ALFA -0
- ENSP00000227471.2:p.Glu96Ter 11 67770598 67770598 UNC93B1 SNP C A A- Non sense ALFA -0
- ENSP00000248244.4:p.Gln392Lys 19 4817216 4817216 TICAM1 SNP C A A- Missense Variant ALFA -0
- ENSP00000329967.5:p.Arg308Ter 12 64875731 64875731 TBK1 SNP C T T- Non sense ALFA -0
- ENSP00000329967.5:p.Phe24Ser 12 64849721 64849721 TBK1 SNP T C C- Missense Variant ALFA -0
- ENSP00000471896.1:p.Glu49del 19 50167946 50167949 IRF3 InDel ATCC A A- In frame deletion ALFA -0
- p.Arg7fs 11 615095 615095 IRF7 SNP A C C- Splice donor variant ALFA -0
- ENSP00000380697.1:p.Met384Val 11 614842 614842 IRF7 SNP T C C- Missense Variant ALFA -0
- ENSP00000380697.1:p.Phe108Ser 11 614907 614907 IRF7 SNP A G G- Missense Variant ALFA -0
- ENSP00000343957.4:p.Ile141ProfsTer6 21 34621038 34621051 IFNAR2 InDel AGATTCTTCCTTTT A A- Frameshift mutation ALFA -0
Fallerini_c.901T>C GRCh38.p13 chr X_c.901T>C X 12867072 12890361 TLR7 SNP - - -- Missense Variant ALFA Fallerini_c.901T>C1
Novel_Wang - 7 101004267 101004267 MUC12 SNP - - T- Missense Variant ALFA Novel_Wang1
rs1006111 NC_000019.10:g.52213979T>A/C/G 19 52213979 52213979 PPP2R1A Tagged SNP T A/C/G -0.5533 Intronic ALFA rs10061111
rs10091098 NC_000008.11:g.121836590G>A 8 121836590 121836590 LINC02855, HAS2-AS1 Tagged SNP G A A0.4314 Intergenic ALFA rs100910980
rs1042542 NC_000017.11:g.78225347T>C 17 78225347 78225347 BIRC5 Tagged SNP T C -0.6139 Non coding transcript variant ALFA rs10425421
rs10490770 NC_000003.12:g.45823240T>C 3 45823240 45823240 LZTFL1, CXCR6, LOC107986083 Tagged SNP T C C0.0123 Downstream transcript variant ALFA rs104907702
rs10735079 NC_000012.11:g.113380008G>A 12 113380008 113380008 OAS3, OAS2, OAS1 Tagged SNP G A/C A0.7728 Intronic ALFA rs107350791
rs10774671 NC_000012.12:g.112919388G>A 12 112919388 112919388 OAS1, OAS2, OAS3 Tagged SNP G A/C A0.4257 Splice acceptor variant ALFA rs107746712
rs10786398 NC_000010.10:g.99926570G>T 10 99926570 99926570 R3HCC1L Tagged SNP G A/C/T T0.0068 Intronic ALFA rs107863981
rs10831496 NC_000011.9:g.88557991= 11 88824823 88824823 CTSC (GRM5) Tagged SNP A C/G/T A0.2437 Intronic ALFA rs108314962
rs10901251 NC_000009.11:g.136126129A>C 9 133250742 133250742 ABO Tagged SNP A C C0.6181 3 Prime UTR Variant ALFA rs109012511
rs11032789 NC_000011.10:g.34624907T>G 11 34624907 34624907 EHF SNP T G G0.4956 Intronic ALFA rs110327891
rs11085727 NC_000019.9:g.10466123C>T 19 10355447 10355447 TYK2 Tagged SNP C T T0.1120 Intronic ALFA rs110857271
rs111972040 NC_000001.10:g.24999361A>G 1 24672870 24672870 SRRM1, NCMAP, CLIC4, RCAN3, NIPAL3, RUNX3 Tagged SNP A G G0.218 Non coding transcript variant ALFA rs1119720403
rs113827944 NC_000007.13:g.117299434G>A 7 117299434 117299434 CFTR Tagged SNP G A A0.002 Intronic ALFA rs1138279440
rs11385942 NC_000003.11:g.45876460_45876461= 3 45876460 45876461 LZTFL1, SLC6A20, CCR9, FYCO1, CXCR6, XCR1, CCR1, CCR3 Tagged SNP G (A) GA (AA) GA-, 0.059 Intronic ALFA rs113859422
rs113892140 NC_000002.11:g.196439005G>A 2 196439005 196439005 SLC39A14, DNAH7, LINC01827 Tagged SNP G A,T A0.2383 Upstream transcript variant ALFA rs1138921400
rs11391519 ENST00000371579.6:c.1461dup 9 137110665 137110665 DPP7 InDel G GC GC0.0296 Frameshift mutation ALFA rs113915190
rs114363287 NG_047085.2:g.41743G>A 21 41494374 41494374 TMPRSS2 SNP C G/T A0 Missense Variant ALFA rs1143632871
rs114566317 ENSP00000248244.4:p.Thr4Ile 19 4818379 4818379 TICAM1 SNP G A A0.0045 Missense Variant ALFA rs1145663171
rs116898161 NC_000006.11:g.147538692A>G 6 147538692 147538692 STXBP5, STXBP5-AS1 Tagged SNP A G G0.0044 Intronic ALFA rs1168981610
rs117217714 NC_000017.10:g.25987181T>C 17 25987181 25987181 WSB1, LGALS9, KSR1, NOS2, LYRM9 Tagged SNP T C C0.0031 Intergenic ALFA rs1172177141
rs117665206 NC_000006.11:g.159029487C>T 6 159029487 159029487 TMEM181 SNP C T T0.0016 Missense Variant ALFA rs1176652061
rs117928001 NC_000006.11:g.147514999C>T 6 147514999 147514999 STXBP5, STXBP5-AS1 Tagged SNP C A/G/T T0.0021 Intronic ALFA rs1179280011
rs11844522 NC_000014.9:g.106066331C>T 14 106066331 106066331 IGHV3-7 Tagged SNP C T T0.5075 Synonymous mutation ALFA rs118445222
rs11919389 NC_000003.12:g.101705614T>C 3 101705614 101705614 RPL24, CEP97, NXPE3, ZBTB11 Tagged SNP T C C0.2855 Intergenic ALFA rs119193892
rs121434431 ENSP00000296795.2:p.Pro554Ser 4 187004500 187004500 TLR3 SNP C T T0.0002 Missense Variant ALFA rs1214344311
rs12329760 NM_001135099.1:c.589G>A / NC_000021.9:g.41480570C>T / NC_000021.8:g.42852497C>T 21 41480570 41480570 TMPRSS2 SNP C T C/A /T0.29025 Missense Variant ALFA rs1232976011
rs1236237792 NM_002569.2:c.1906A>G 15 90881399 90881399 Furin SNP A G G0 Missense Variant ALFA rs12362377921
rs12461764 NC_000019.10:g.51739497= 19 51739497 51739497 FPR1, HAS1 Tagged SNP G A,C,T G0.2417 Intergenic ALFA rs124617641
rs12639314 NC_000003.12:g.46100012A>C 3 46100012 46100012 CCR5 Tagged SNP A C C0.5692 Intergenic ALFA rs126393141
rs12649400 NC_000004.12:g.86487989C>T 4 86487989 86487989 MAPK10 Tagged SNP C T -0.1482 Intronic ALFA rs126494001
rs12706520 NC_000007.14:g.123366673G>A 7 123366673 123366673 IQUB Tagged SNP G A,C,T A0.1572 Intergenic ALFA rs127065200
rs12796811 NC_000011.10:g.5670244C>G 11 5670244 5670244 TRIM5 Tagged SNP C G/T G0.1386 Intronic ALFA rs127968110
rs13050728 NC_000021.9:g.33242905T>C 21 33242905 33242905 IFNAR2 Tagged SNP T A/C C/T0.7868, 0.2132 Intronic ALFA rs130507286
rs13078854 NC_000003.12:g.45820440G>A 3 45820440 45820440 LOC107986083,LZTFL1, SLC6A20, CCR9, FYCO1, CXCR6, XCR1 Tagged SNP G A A0.0143 Intronic ALFA rs130788541
rs13227460 NC_000007.13:g.22588381C>T 7 22588381 22588381 TOMM7, STEAP1B, IL6 Tagged SNP C T T0.0679 Intergenic ALFA rs132274601
rs13288295 NC_000009.12:g.121807966= 9 121807966 121807966 DAB2IP,TTLL11 Tagged SNP G A/C/T A0.1722 Intergenic ALFA rs132882951
rs13291798 NC_000009.11:g.136127481A>G 9 133252094 133252094 ABO Tagged SNP A G G0.1467 3 Prime UTR Variant ALFA rs132917981
rs13334749 NC_000016.10:g.4902193C>T 16 4902193 4902193 PPL Tagged SNP C T -0.3791 Intronic ALFA rs133347491
rs138763430 NC_000008.10:g.37707277C>T 8 37707277 37707277 BRF2 SNP C T T0.0002 Missense Variant ALFA rs1387634301
rs1431889 NC_000008.10:g.98141643G>C 8 98141643 98141643 CPQ, LOC101927066 Tagged SNP G C/T C0.0266 Intronic ALFA rs14318890
rs143334143 NC_000006.11:g.31121426G>A 6 31121426 31121426 MHC (CCHCR1) Tagged SNP G A A0.0468 Intronic ALFA rs1433341435
rs143359233 ENST00000204726.7:c.2812-1G>A 12 132786788 132786788 GOLGA3 SNP C T T0.0008 Splice acceptor variant ALFA rs1433592330
rs143825287 NC_000006.12:g.151192899= 6 151192899 151192899 LOC102723831, MTHFD1L, AKAP12 Tagged SNP A C/G C/G0 Intergenic ALFA rs1438252872
rs144582715 NC_000003.12:g.150088196G>C 3 150088196 150088196 LOC105374313 Tagged SNP G C C0.0143 Intergenic ALFA rs1445827150
rs1455662 NC_000004.12:g.179423719A>G 4 179423719 179423719 LOC105377567 Tagged SNP A G G0.4549 Intergenic ALFA rs14556620
rs147149459 NC_000017.10:g.8006708G>A 17 8006708 8006708 ALOXE3 SNP G A A0.0000 Missense Variant ALFA rs1471494591
rs147244662 NP_057646.1:p.Ala1032Thr X 12888602 12888602 TLR7 SNP G A A0.0005 Missense Variant ALFA rs1472446621
rs147244662 NP_057646.1:p.Ala1032Thr X 12888602 12888602 TLR7 SNP G A A0.0005 Missense Variant ALFA rs1472446620
rs148218440 NC_000019.9:g.29589778G>A 19 29589778 29589778 UQCRFS1/LOC105372352 Tagged SNP G A A0.0255 Intergenic ALFA rs1482184400
rs149314023 NP_057646.1:p.Val219Ile X 12886163 12886163 TLR7 SNP G A A0.0006 Missense Variant ALFA rs1493140231
rs150892504 NC_000005.9:g.96245365C>T 5 96245365 96245365 ERAP2,ERAP1 SNP C G/T T0.0019 Missense Variant ALFA rs1508925041
rs151256885 NC_000017.10:g.8013217C>T 17 8013217 8013217 ALOXE3 SNP C G/T T0.0161 Intronic ALFA rs1512568850
rs155788 NC_000005.10:g.179833528T>C/G 5 179833528 179833528 SQSTM1 Tagged SNP T C/G -0.4215 Intronic ALFA rs1557881
rs17000900 NC_000021.8:g.42798030C>A 21 41426103 41426103 MX1 SNP C A/T A0.0769 Intronic ALFA rs170009001
rs1712779 NC_000011.9:g.114597154A>T 11 114726432 114726432 NNMT, CADM1, ZBTB16, RBM1, REX02,C11orf71 (NXPE2) Tagged SNP A G/T T0.0131 Intronic ALFA rs17127792
rs17142392 NC_000006.12:g.6626750A>C/G/T 6 6626750 6626750 LY86 Tagged SNP A C/G/T -0.2623 Intronic ALFA rs171423921
rs17854725 NC_000021.8:g.42845383A>G 21 41473456 41473456 TMPRSS2 SNP A G G0.378 Synonymous variant ALFA rs178547250
rs1800450 NC_000010.11:g.52771475C>T 10 52771475 52771475 MBL2 SNP C T T0.0379 Missense Variant ALFA rs18004507
rs1801020 NC_000005.10:g.177409531A>G 5 177409531 177409531 F12, SLC34A1 SNP A G G0.55909 5' UTR variant ALFA rs18010201
rs1819040 NC_000017.11:g.46142465T>A 17 46142465 46142465 KANSL1, ARHGAP27, PLEKHM1, LINC02210-CRHR1, CRHR1, SPPL2C, MAPT, STH, LRRC37A, ARL17B, LRRC37A2, ARL17A, NSF, WNT3 Tagged SNP T A/C/G A0.0051 Intronic ALFA rs18190401
rs181939581 ENSP00000270139.3:p.Trp73Cys 21 34713323 34713323 IFNAR1 SNP G C C- Missense Variant ALFA rs1819395811
rs183712207 NC_000002.11:g.196611282G>A 2 196611282 196611282 DNAH7, SLC39A16, LOC107985972 Tagged SNP G A A0.0045 Intronic ALFA rs1837122070
rs1886814 NC_000006.11:g.41502683A>C NC_000006.12:g.41534945A>C 6 41502683 41502683 FOXP4-AS1 Tagged SNP A C C0.0759 Intronic ALFA rs18868146
rs189681811 NM_016562.4:c.2759G>A X 12888267 12888267 TLR7 SNP G A A0 Missense Variant ALFA rs1896818111
rs190509934 NC_000023.11:g.15602217T>C X 15602217 15602217 ACE2 Tagged SNP T C C0.0131 Intronic ALFA rs1905099341
rs191631470 NC_000002.11:g.196859045C>T 2 196859045 196859045 DNAH7, SLC39A17 Tagged SNP C T T0.0024 Intronic ALFA rs1916314700
rs199550479 ENSP00000471896.1:p.Asn146Lys 19 50165845 50165845 IRF3 SNP G C C0 Missense Variant ALFA rs1995504791
rs199969472 NC_000009.11:g.136126498G>A 9 133251111 133251111 ABO Tagged SNP G A A0.2505 3 Prime UTR Variant ALFA rs1999694721
rs200008298 NC_000002.11:g.196602159_196602163dup 2 196602155 196602161 SLC39A15, DNAH7, LOC107985972 Tagged SNP A CTATA CTATA0.0202 3 Prime UTR Variant ALFA rs2000082980
rs200146658 NP_057646.1:p.Ala288Val X 12886371 12886371 TLR7 SNP C A/T T0 Missense Variant ALFA rs2001466581
rs200553089 NM_016562.3:c.2383G>T X 12906010 12906010 TLR7 SNP G T Tnone Missense Variant ALFA rs2005530890
rs200584390 NC_000022.11:g.18607647T>G 22 18607647 18607647 RIMBP3 Tagged SNP T G G0.1105 Missense Variant ALFA rs2005843901
rs200975425 NC_000015.10:g.34527993C>T 15 34527993 34527993 GOLGA8B Tagged SNP C G/T T0.1916 Missense Variant ALFA rs2009754251
rs201782115 ENSP00000248244.4:p.Ser60Cys 19 4818211 4818211 TICAM1 SNP G C C0 Missense Variant ALFA rs2017821151
rs2034787124 NC_000019.10:g.7823652C>T 19 7823652 7823652 CD209 SNV C T -0 Verify ALFA rs20347871240
rs2071430 NC_000021.8:g.42798065G>T 21 41426138 41426138 MX1 SNP G T T0.2061 Intronic ALFA rs20714301
rs2080811 NC_000002.12:g.15584186G>A 2 15584186 15584186 DDX1 Tagged SNP G A/T A0.0311 Intergenic ALFA rs20808110
rs2109069 NC_000019.10:g.4719431G>A 19 4719431 4719431 DPP9 Tagged SNP G A A0.2212 Intronic ALFA rs210906910
rs2176724 NC_000002.11:g.196952410G>A 2 196952410 196952410 DNAH7, SLC39A18 Tagged SNP G A A0.3642 Intergenic ALFA rs21767241
rs2236757 NC_000021.9:g.33252612= 21 33252612 33252612 IFNAR2 Tagged SNP A G A0.2144 Intronic ALFA rs22367574
rs2271616 NC_000003.12:g.45796521G>T 3 45796521 45796521 SLC6A20, CCR3, LOC107986082 Tagged SNP G A/T T0.0230 Intronic ALFA rs22716161
rs2282679 NC_000004.12:g.71742666T>G 4 71742666 71742666 GC SNP T G G0.08527 Intronic ALFA rs22826791
rs2285666 NC_000023.10:g.15610348C>A X 15592225 15592225 ACE2 SNP C A,G,T A0.2315 Intronic ALFA rs22856660
rs2298659 NC_000021.9:g.41473447G>A 21 41473447 41473447 TMPRSS2 SNP G A A0.1784 Synonymous variant ALFA rs22986591
rs2301762 NC_000016.9:g.3550977C>G 16 3500977 3550977 CLUAP1 Tagged SNP C G/T G0.0003 Upstream transcript variant ALFA rs23017621
rs2519093 NM_020469.3:c.29-4288A>G 9 133266456 133266456 ABO SNV T C -- Intronic ALFA rs25190930
rs2531743 NC_000003.12:g.45796808G>A 3 45796808 45796808 SLC6A20, LOC107986082,LZTFL1, SACML1, CCR9, FYCO1, XCR1, CCR3, CCR1 Tagged SNP G A,C,T A0.4753 Upstream transcript variant ALFA rs25317432
rs28730361 NC_000008.11:g.125940223T>A 8 125940223 125940223 LINC00861/ AC016074.2 Tagged SNP T A/C/G A0.5604 Intronic ALFA rs287303610
rs2874140 NC_000008.10:g.98142930A>T 8 98142930 98142930 CPQ, LOC101927066 Tagged SNP A G/T T0.3951 Intronic ALFA rs28741400
rs28946889 NC_000002.12:g.233762816G>T 2 233762816 233762816 UGT1A complex SNP G T T0.0547 Intronic ALFA rs289468892
rs2923084 NC_000011.10:g.10367235A>G/T 11 10367235 10367235 CAND1.11 Tagged SNP A G/T -0.456 Intronic ALFA rs29230841
rs2957702 NC_000011.10:g.10352760T>A/C/G 11 10352760 10352760 CAND1.11 Tagged SNP T A/C/G -0.5545 Intronic ALFA rs29577021
rs2957707 NC_000011.10:g.10355711T>A/G 11 10355711 10355711 CAND1.11 Tagged SNP T A/G -0.3670 Intronic ALFA rs29577071
rs2957714 NC_000011.10:g.10357413T>C/G 11 10357413 10357413 CAND1.11 Tagged SNP T C/G -0.0490 Intronic ALFA rs29577141
rs3131294 NC_000006.11:g.32180146A>G 6 32180146 32180146 NOTCH4 Tagged SNP A C/G/T G0.9773 Intronic ALFA rs31312941
rs334 NC_000011.9:g.5248232T>A 11 5248232 5248232 HBB Tagged SNP T A/C/G A0.003 Missense Variant ALFA rs3340
rs34039247 NC_000009.11:g.136127956A>C 9 133252569 133252569 ABO Tagged SNP A C/T C0.1253 3 Prime UTR Variant ALFA rs340392471
rs34266669 NC_000009.11:g.136126495C>T 9 133251108 133251108 ABO Tagged SNP C T T0.2426 3 Prime UTR Variant ALFA rs342666691
rs34418657 NC_000003.12:g.46373293G>T 3 46373293 46373293 CCR5 SNP G A/T T0 Missense Variant ALFA rs344186571
rs35081325 NC_000003.12:g.45848429A>G/T 3 45848429 45848429 LZTFL1, SLC6A20, CCR9, FYCO1, CXCR6, XCR1, CCR1, CCR3 Tagged SNP A G/T TT=0.0045 Intronic ALFA rs350813252
rs35705950 NC_000011.10:g.1219991G>T 11 1219991 1219991 MUC5B SNP G A/T T0 Upstream transcript variant ALFA rs357059506
rs35803318 NC_000023.10:g.15582209C>T X 15564086 15564086 ACE2 SNP C T T0.0161 Synonymous variant ALFA rs358033180
rs35951367 NC_000003.12:g.46076947T>C 3 46076947 46076947 CCR5 Tagged SNP T C C0.0978 Upstream transcript variant ALFA rs359513673
rs360102 NC_000001.11:g.225880162G>A 1 225880162 225880162 TMEM63A Tagged SNP G A -0.32059 Intronic ALFA rs3601021
rs3766539 NC_000001.11:g.203224133T>C 1 203224133 203224133 CHIT1 Tagged SNP T C -0.0176 Intronic ALFA rs37665391
rs3787950 NC_000021.8:g.42866296T>C 21 41494369 41494369 TMPRSS2 SNP T C C0.2018 Synonymous variant ALFA rs37879500
rs429358 NC_000019.9:g.45411941T>C 19 44908684 44908684 APOE SNP T C C0.1288 Missense Variant ALFA rs4293581
rs4646994 NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT 17 63488530 63488543 ACE InDel - - homozygous insertion/deletion of Alu repetitive element- Intronic ALFA rs46469943
rs4735444 NC_000008.10:g.98140991C>T 8 98140991 98140991 CPQ, LOC101927066 Tagged SNP C T T0.3466 Intronic ALFA rs47354441
rs4782327 NC_000016.10:g.89117727= 16 89117727 89117727 ACSF3 Tagged SNP G A,C,T G0.3401 Intronic ALFA rs47823271
rs4800182 NC_000018.10:g.24233008A>G/T 18 24233008 24233008 OSBPL1A Tagged SNP A G/T -0.3125 Intronic ALFA rs48001821
rs4801778 NC_000019.10:g.48867352G>T 19 48867352 48867352 PLEKHA4, PPP1R15A, TULP2, NUCB1, HSD17B14 Tagged SNP G A/T T0.1473 Intronic ALFA rs48017781
rs505922 NC_000009.12:g.133273813C>T 9 133273813 133273813 ABO SNV C T -0.6477 Intronic ALFA rs5059220
rs529565 NC_000009.11:g.136149500T>C 9 133274084 133274084 ABO Tagged SNP T A/G/T C0.3937 Intronic ALFA rs5295652
rs529565_2 NC_000009.12:g.133274084C>T 9 133274084 133274084 ABO Tagged SNP C A/G/T T0.6063 Intronic ALFA rs529565_21
rs531453964 NC_000008.10:g.98143139dup 8 98143138 98143138 CPQ, LOC101927066 Tagged SNP C CA CA0 Intronic ALFA rs5314539641
rs55986907 NC_000007.13:g.22817292C>T 7 22817292 22817292 TOMM7, IL-6 Tagged SNP C A/T T0.1494 Intergenic ALFA rs559869070
rs56393506 NC_000006.12:g.160668275C>T 6 160668275 160668275 LPA SNP C T T0.1979 Downstream transcript variant ALFA rs563935061
rs5743781 NP_057646.1:p.Ala448Val X 12886851 12886851 TLR7 SNP C T T0 Missense Variant ALFA rs57437811
rs57875989 c.3002-13_3042del54 1 7784291 7845177 PER3 InDel - - -unknown Deletion ALFA rs578759892
rs5798227 NC_000012.12:g.52726317del 12 52726316 52726317 KRT126P,LOC400036 Tagged SNP CC C C0.8741 Intergenic ALFA rs57982271
rs5874914 NC_000006.12:g.23379133del 6 23379133 23379133 LOC102724749, LOC105374976, AL139231.1 InDel AT A A0.0024 Non coding transcript variant ALFA rs58749140
rs5878125 NC_000006.12:g.90301106_90301107insAACT 6 90301105 90301105 LOC105377891, AL132996.1 InDel A ATTAC ATTAC0.0022 Intronic ALFA rs58781250
rs60200309 NC_000005.10:g.170092608G>A 5 170092608 170092608 DOCK2 Tagged SNP G A A0.0010 Intergenic ALFA rs602003098
rs6020298 NC_000020.11:g.50152518G>A 20 50152518 50152518 TMEM189, UBE2V1 Tagged SNP G A A0.7830 Intronic ALFA rs60202981
rs6065904 NC_000020.11:g.45906012G>A 20 45906012 45906012 PLTP SNV G A -0.22678 Intronic ALFA rs60659040
rs60811869 NC_000017.10:g.25590833T>C 17 25590833 25590833 WSB1 Tagged SNP T C C0.0268 Intergenic ALFA rs608118690
rs60870724 - 3 101776498 101776498 - InDel CA C C0 Verify ALFA rs608707241
rs6489867 NC_000012.11:g.113363550C>T 12 112925745 112925745 OAS1, OAS2, OAS3 Tagged SNP C T T0.7427 Intronic ALFA rs64898671
rs6490100 NC_000012.12:g.116946357T>C 12 116946357 116946357 FBXW8 Tagged SNP T C -0.0393 Intronic ALFA rs64901001
rs657152 NC_000009.11:g.136139265C>A 9 133263862 133263862 ABO Tagged SNP A C, T A0.4964 Intronic ALFA rs6571523
rs6668622 NC_000001.10:g.185414582T>C 1 185445450 185445450 IVNS1ABP, SWT1, LOC107985239 Tagged SNP T C C0.2627 Intergenic ALFA rs66686222
rs6970487 NC_000007.14:g.158227455A>G 7 158227455 158227455 PTPRN2 Tagged SNP A G/T G0.7368 Intronic ALFA rs69704870
rs7007951 NC_000008.10:g.98146644C>T 8 98146644 98146644 CPQ, LOC101927066 Tagged SNP C A/T T0.3197 Intronic ALFA rs70079510
rs7086391 NC_000010.10:g.100013563C>T 10 100013563 100013563 R3HCC1L/LOXL4 Tagged SNP C T T0.1623 Intronic ALFA rs70863910
rs71040457 NC_000002.11:g.220294782_220294783insG 2 220294783 220294784 DES, SPEG Tagged SNP AG AGG A- Intergenic ALFA rs710404571
rs71325088 NC_000003.11:g.45862952T>C 3 45821460 45821460 LZTFL1, LOC107986083, SLC6A20, SACM1L, CCR9, FYCO1, XCR1, CCR1, CCR3 Tagged SNP T C C0.0143 Intergenic ALFA rs713250881
rs7152677 NC_000014.9:g.31953540G>C 14 31953540 31953540 LINC02313 Tagged SNP G C/T C0.7476 Intergenic ALFA rs71526770
rs72552343 ENSP00000270139.3:p.Pro335del 21 34721704 34721704 IFNAR1 InDel TTCC T T0 In frame deletion ALFA rs725523431
rs72711165 NC_000008.11:g.124324323T>C 8 124324323 124324323 TMEM65 Tagged SNP T C C0.0316 Intronic ALFA rs727111652
rs7305574 NC_000012.12:g.3716547T>A/C 12 3716547 3716547 CRACR2A Tagged SNP T A/C -0.1189 Intronic ALFA rs73055741
rs73060484 NC_000002.11:g.196364477A>C 2 196364477 196364477 DNAH7, SLC39A10, LOC105376755 Tagged SNP A C C0.1059 Intergenic ALFA rs730604840
rs73062389 NC_000003.11:g.45835417G>A 3 45835417 45835417 SLC6A20 Tagged SNP G A A0.0089 Intronic ALFA rs730623891
rs73064425 NC_000003.11:g.45901089C>T NC_000003.12:g.45859597C>T 3 45901089 45901089 LZTFL1, SLC6A20, CCR9, FYCO1, CXCR6, XCR1, CCR1, CCR3 Tagged SNP C T T0.0139 Intronic ALFA rs730644254
rs73070529 NC_000002.11:g.196412097C>A 2 196412097 196412097 DNAH7, SLC39A13 Tagged SNP C A/T A0.2010 Intergenic ALFA rs730705290
rs73166864 NC_000022.10:g.23340580T>C 22 22998413 22998413 Immunoglobulin lamba locus (IGLL5), GNAZ,RSPH14,RAB36,BCR Tagged SNP T C/G C0.0003 Intergenic ALFA rs731668643
rs7318817 NC_000013.11:g.28043571C>A/G/T 13 28043571 28043571 FLT3 Tagged SNP C A/G/T -0.6112 Intronic ALFA rs73188171
rs7327609 NC_000013.11:g.28090345C>A/G/T 13 28090345 28090345 FLT3 Tagged SNP C A/G/T -0.5764 Intronic ALFA rs73276091
rs73910904 NC_000002.11:g.6153442G>A 2 6013310 6013310 LINE-LIMB7 Tagged SNP G A/T A- Verify ALFA rs739109041
rs7412 NC_000019.10:g.44908822C>T 19 44908822 44908822 APOE SNP C T C/T0.1046 Missense Variant ALFA rs74121
rs74417002 NC_000002.11:g.196384505A>G 2 196384505 196384505 DNAH7, SLC39A12 Tagged SNP A G G0.0608 Intergenic ALFA rs744170020
rs746291558 ENSP00000270139.3:p.Ser422Arg 21 34725184 34725184 IFNAR1 SNP A C C- Missense Variant ALFA rs7462915581
rs74956615 NC_000019.9:g.10427721T>A 19 10317045 10317045 RAVER1, FDX2, ICAM1, ICAM4, ICAM5, ZGLP1, ICAM3, TYK2 Tagged SNP T A/C A0.0003 3 Prime UTR Variant ALFA rs749566153
rs753582183 ENSP00000380697.1:p.Gly260ArgfsTer3 11 613966 613979 IRF7 InDel CGGGCTGGGGCCCG C None- Frameshift mutation ALFA rs7535821831
rs75517918 NC_000006.12:g.151192899= 4 2396815 2396815 ZFYVE28 Tagged SNP G A A0.1177 Intronic ALFA rs755179181
rs75558547 NC_000001.11:g.88527468C>T 1 88527468 88527468 PKN2-AS1 Tagged SNP C T T0.0115 Intergenic ALFA rs755585470
rs75603675 NM_001135099.1:c.23G>T 21 41507982 41507982 TMPRSS2 SNP C A/T T0 Missense Variant ALFA rs756036751
rs756347258 ENSP00000380697.1:p.Gln198Ter 11 614300 614300 IRF7 SNP G A A- Non sense ALFA rs7563472581
rs765147452 ENSP00000380697.1:p.Arg382Gln 11 613337 613337 IRF7 SNP C T T- Missense Variant ALFA rs7651474521
rs76700116 NC_000009.11:g.136126499A>C 9 133251112 133251112 ABO Tagged SNP A C C0.2383 3 Prime UTR Variant ALFA rs767001161
rs769208985 NM_002569.2:c.893G>A 15 90878816 90878816 Furin SNP G A A0 Missense Variant ALFA rs7692089851
rs77534576 NC_000017.11:g.49863303C>T 17 49863303 49863303 KAT7, TAC4, DLX3, FLJ45513 Tagged SNP C T T0.006 Intergenic ALFA rs775345762
rs77578623 NC_000002.11:g.196369073C>T 2 196369073 196369073 DNAH7, SLC39A10, LOC105376755 Tagged SNP C T T0.0262 Intergenic ALFA rs775786230
rs7817272 NC_000008.10:g.98140470T>C 8 98140470 98140470 CPQ, LOC101927066 Tagged SNP T A/C/G C0.35418 Intronic ALFA rs78172720
rs7849280 NC_000009.11:g.136126636A>G 9 133251249 133251249 ABO Tagged SNP A G G0.1240 3 Prime UTR Variant ALFA rs78492801
rs79833209 NC_000005.10:g.163300447C>T 5 163300447 163300447 LOC105377700, CCNG1, NUDCD2, HMMR Tagged SNP C T T0.0047 Intronic ALFA rs798332091
rs8176719 NC_000009.11:g.136132908_136132909insC 9 136132908 136132909 ABO InDel T TC TC0.3098 Frameshift mutation ALFA rs81767191
rs879055593/9411378 NC_000009.12:g.133271182= 9 133271182 133271182 ABO Tagged SNP T A/C T0.1671 Intronic ALFA rs879055593/94113781
rs884811 NC_000010.10:g.99923763C>G 10 99923763 99923763 R3HCC1L Tagged SNP C A/G/T G0.0252 Intronic ALFA rs8848110
rs911360 NC_000006.12:g.20314488C>T 6 20314488 20314488 LOC101928573,AL158198.1 Tagged SNP C T T0.5431 Intronic ALFA rs9113600
rs920576 NC_000008.10:g.98147539T>C 8 98147539 98147539 CPQ, LOC101927066 Tagged SNP T C/G C0.3126 Intronic ALFA rs9205760
rs9268517 NC_000006.12:g.32411963C>T 6 32411963 32411963 BTNL2,HLA-DRA SNP C T T0.0751 Downstream transcript variant ALFA rs92685170
rs9380142 NC_000006.11:g.29798794= 6 29798794 29798794 HLA-G Tagged SNP A G A0.8139 3 Prime UTR Variant ALFA rs93801421
rs9411378 NC_000009.12:g.133270015A>C 9 133270015 133270015 ABO Tagged SNP A C/T C0.486 Intronic ALFA rs94113782
rs9411475 NC_000009.11:g.136127268T>C 9 133251881 133251881 ABO Tagged SNP T C C0.1914 3 Prime UTR Variant ALFA rs94114751
rs9427097 NC_000001.11:g.154596207T>A/G 1 154596207 154596207 ADAR Tagged SNP T A/G -0.0293 Intronic ALFA rs94270971
rs970393690 ENSP00000380697.1:p.Pro377AlafsTer38 11 613353 613353 IRF7 InDel G GC None- Frameshift mutation ALFA rs9703936901
rs9804218 NC_000010.10:g.56495374G>C 10 56495374 56495374 PCDH15 Tagged SNP G A/C C0.1601 Intronic ALFA rs98042181
rs9845542 NC_000003.12:g.46070377G>A 3 46070377 46070377 CCR5 Tagged SNP G A A0.5407 Upstream transcript variant ALFA rs98455421
TLR7 deletion NM_016562.3:c.2129_2132del X 12905756 12905759 TLR7 InDel AACT - -none Non sense ALFA TLR7 deletion1