Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1056744559
rs1056744559
TLR4
1 1.000 0.080 9 117713974 stop gained C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1265163
rs1265163
POU5F1 ; TCF19
1 1.000 0.080 6 31166310 missense variant C/G;T snv 0.14; 7.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs171941
rs171941
LOC105379048
1 1.000 0.080 5 79884303 intergenic variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
2 0.925 0.080 6 31271630 missense variant G/A;T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs190589393
rs190589393
KIR2DS4 ; KIR3DL1 ; KIR3DS1
2 0.925 0.080 19 54818487 missense variant C/A snv 1.7E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2308557
rs2308557
HLA-B ; HLA-C
1 1.000 0.080 6 31271640 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs303218
rs303218
IFIT1 ; LIPA
1 1.000 0.080 10 89392836 intron variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35875104
rs35875104
CYP21A2 ; EHMT2
1 1.000 0.080 6 31888517 intron variant T/C snv 3.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs400488
rs400488
HLA-A ; HCG9
1 1.000 0.080 6 29975258 non coding transcript exon variant G/A snv 0.19 0.22 0.010 1.000 1 2016 2016
dbSNP: rs6462008
rs6462008 		1 1.000 0.080 7 27309860 intergenic variant G/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs676925
rs676925
CXCR5 ; BCL9L
1 1.000 0.080 11 118894979 3 prime UTR variant C/G snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs7944135
rs7944135 		1 1.000 0.080 11 59253514 upstream gene variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs9394021
rs9394021
VARS2
1 1.000 0.080 6 30925350 missense variant G/A snv 0.29 0.23 0.010 1.000 1 2015 2015
dbSNP: rs763809932
rs763809932
TTN ; TTN-AS1
1 1.000 0.080 2 178614110 missense variant G/A;T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs199473565
rs199473565
SCN5A
3 0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.020 1.000 2 2015 2016
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs117648444
rs117648444
IFNL4
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs142346548
rs142346548
IFNL3
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs179009
rs179009
TLR7
2 0.925 0.160 X 12885361 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2517459
rs2517459 		6 0.882 0.160 6 30929245 downstream gene variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2532932
rs2532932 		2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015