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: rs538068583
rs538068583
1 1.000 0.080 12 56930431 missense variant C/G;T snv 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs764593071
rs764593071
1 1.000 0.080 12 56934150 missense variant C/G;T snv 5.6E-05 0.700 0
dbSNP: rs774363396
rs774363396
2 0.925 0.080 12 56929456 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs111033307
rs111033307
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs118203937
rs118203937
3 0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1373855924
rs1373855924
4 0.851 0.240 15 91009812 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1457403673
rs1457403673
4 0.882 0.120 17 41586785 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28929485
rs28929485
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs318240748
rs318240748
3 0.882 0.080 14 24260459 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs531650682
rs531650682
4 0.851 0.080 14 24261776 missense variant G/A;C snv 5.6E-05 9.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs757658720
rs757658720
3 0.882 0.080 14 24249451 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2017 2017