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: rs199574576
rs199574576
1 1.000 0.040 4 2963184 missense variant G/C;T snv 7.5E-05 0.010 1.000 1 2018 2018