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: rs120074146
rs120074146
2 1.000 0.080 11 108142545 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.700 1.000 1 2019 2019