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: rs3825393
rs3825393
2 0.925 0.120 12 109445569 missense variant T/C;G snv 0.64; 1.1E-04 0.010 1.000 1 2018 2018