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: rs1057519565
rs1057519565
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555483699
rs1555483699
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs1565706229
rs1565706229
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs1569301036
rs1569301036
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs786204849
rs786204849
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0