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: rs750610248
rs750610248
3 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016