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: rs1801144
rs1801144
1 11 62614336 missense variant G/A;C snv 2.0E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs71490394
rs71490394
3 11 62602683 missense variant G/A snv 0.26 0.26 0.700 1.000 1 2019 2019