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: rs121912441
rs121912441
2 0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06 0.800 1.000 32 1976 2017