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: rs122458138
rs122458138
1 1.000 0.080 X 109661643 missense variant G/T snv 0.800 1.000 1 2002 2002
dbSNP: rs122458139
rs122458139
1 1.000 0.080 X 109674403 missense variant G/A snv 0.700 0
dbSNP: rs1569423317
rs1569423317
1 1.000 0.080 X 109669175 splice acceptor variant T/C snv 0.700 0