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: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 0
dbSNP: rs786205145
rs786205145
2 0.925 0.120 5 224504 missense variant C/T snv 0.700 0
dbSNP: rs786205146
rs786205146
4 0.882 0.120 1 161314411 frameshift variant T/- del 0.700 0
dbSNP: rs786205147
rs786205147
4 0.882 0.120 1 161340638 missense variant G/A;T snv 0.700 0