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: rs1040461
rs1040461
1 1.000 0.040 6 57190556 missense variant C/T snv 9.8E-02 0.12 0.010 1.000 1 2018 2018