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: rs201023639
rs201023639
1 1.000 0.080 20 5302084 missense variant C/G;T snv 4.4E-05; 6.0E-05 0.010 1.000 1 2013 2013