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: rs1452231640
rs1452231640
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.020 1.000 2 2019 2019