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: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.030 1.000 3 1999 2018
dbSNP: rs1199475313
rs1199475313
4 0.851 0.040 8 37966277 missense variant T/C snv 7.0E-06 0.010 1.000 1 2018 2018