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: rs121908834
rs121908834
1 1.000 0.080 1 32797768 missense variant C/G;T snv 0.800 1.000 6 2003 2016
dbSNP: rs121908833
rs121908833
1 1.000 0.080 1 32810994 missense variant C/T snv 0.800 1.000 1 2006 2006
dbSNP: rs786200893
rs786200893
1 1.000 0.080 1 32806523 inframe deletion GCTTTACCACCT/- delins 0.700 0
dbSNP: rs786204003
rs786204003
1 1.000 0.080 1 32810729 missense variant TC/AT mnv 0.700 0