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: rs34474104
rs34474104
1 1.000 11 5254417 missense variant G/A snv 0.800 1.000 6 1989 2014
dbSNP: rs34878913
rs34878913
2 1.000 11 5254482 missense variant A/G snv 0.800 1.000 6 1989 2014
dbSNP: rs35103459
rs35103459
2 0.925 0.040 11 5254330 missense variant G/A snv 0.800 1.000 6 1989 2014
dbSNP: rs587776864
rs587776864
1 1.000 11 5254405 missense variant C/A;T snv 0.800 0