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: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 0