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: rs3129888
rs3129888
HLA-DRA
4 0.882 0.240 6 32443949 intron variant G/A snv 0.82 0.80 0.700 1.000 1 2013 2013
dbSNP: rs7192
rs7192
HLA-DRA
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
HLA-DRB9
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs8084
rs8084
HLA-DRA
2 1.000 0.120 6 32443258 splice acceptor variant A/C;T snv 0.61; 8.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs2239804
rs2239804
HLA-DRA
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2013 2013
dbSNP: rs1048369
rs1048369
GPC4
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs204995
rs204995
PBX2
2 1.000 0.120 6 32186508 non coding transcript exon variant A/G snv 0.21 0.27 0.700 1.000 1 2013 2013
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2013 2013
dbSNP: rs1062630
rs1062630
POU5F1
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs204994
rs204994
PBX2
4 0.925 0.120 6 32187221 non coding transcript exon variant C/T snv 0.18 0.21 0.700 1.000 1 2013 2013
dbSNP: rs3130628
rs3130628
BAG6
2 1.000 0.120 6 31641495 non coding transcript exon variant T/C snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2736157
rs2736157
PRRC2A ; MIR6832
2 1.000 0.120 6 31633043 intron variant A/G;T snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130618
rs3130618
CSNK2B ; GPANK1
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs3130626
rs3130626
PRRC2A
2 1.000 0.120 6 31630712 synonymous variant A/G snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
PRRC2A
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3117583
rs3117583
BAG6 ; APOM
3 0.925 0.200 6 31651799 5 prime UTR variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10885
rs10885
PRRC2A
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs28362680
rs28362680
BTNL2 ; TSBP1-AS1
1 6 32403039 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2013 2013
dbSNP: rs28362683
rs28362683
BTNL2 ; TSBP1-AS1
2 1.000 0.040 6 32405186 synonymous variant G/A snv 0.12 0.10 0.700 1.000 1 2013 2013
dbSNP: rs9267532
rs9267532
CSNK2B ; LY6G5B
2 1.000 0.120 6 31672202 missense variant C/T snv 7.4E-02 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs10947261
rs10947261
BTNL2 ; TSBP1-AS1
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1161098
rs1161098
LINC02408 ; LOC105369812
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs116671518
rs116671518
DKK2
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017