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: rs1382734231
rs1382734231
1 1.000 0.040 7 128854578 missense variant C/A;T snv 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1563005534
rs1563005534
1 1.000 0.040 7 128857244 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1554401403
rs1554401403
1 1.000 0.040 7 128854577 missense variant C/T snv 0.700 0
dbSNP: rs1114167361
rs1114167361
6 0.827 0.160 7 128845022 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185
3 0.882 0.040 7 128845012 missense variant GC/CT mnv 0.010 1.000 1 2018 2018