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: rs879255630
rs879255630
2 0.925 1 65411394 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs398122404
rs398122404
1 1.000 1 65385710 splice acceptor variant A/G snv 0.700 0
dbSNP: rs398122405
rs398122405
1 1.000 1 65406052 stop gained C/T snv 0.700 0
dbSNP: rs864622011
rs864622011
1 1.000 1 65366107 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs886039854
rs886039854
1 1.000 1 65408685 stop gained C/G;T snv 0.700 0