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: rs121909629
rs121909629
3 0.882 0.200 8 38415905 missense variant C/T snv 0.700 0
dbSNP: rs121909630
rs121909630
2 0.925 0.160 8 38428043 missense variant C/A snv 0.700 0
dbSNP: rs121909638
rs121909638
3 0.882 0.280 8 38421853 missense variant A/G snv 0.700 0
dbSNP: rs121909639
rs121909639
2 0.925 0.160 8 38415899 stop gained G/A snv 0.700 0
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs121909642
rs121909642
2 0.925 0.160 8 38414174 missense variant G/A snv 0.700 0
dbSNP: rs397515444
rs397515444
2 0.925 0.160 8 38417975 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs397515445
rs397515445
7 0.807 0.280 8 38414263 missense variant T/C snv 0.700 0
dbSNP: rs397515446
rs397515446
2 0.925 0.160 8 38414599 missense variant C/T snv 0.700 0
dbSNP: rs587776835
rs587776835
1 1.000 8 38418340 frameshift variant CA/- del 0.700 0
dbSNP: rs886037634
rs886037634
2 0.925 0.160 8 38421836 missense variant C/T snv 0.700 0