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: rs199673455
rs199673455
1 1.000 12 50107640 missense variant G/A;C snv 7.2E-05; 1.2E-05 0.800 0
dbSNP: rs200327418
rs200327418
1 1.000 12 50106287 splice acceptor variant G/C snv 0.700 0