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: rs3088232
rs3088232
1 1.000 0.040 1 91979700 missense variant C/G;T snv 0.21; 1.6E-05 0.010 < 0.001 1 2014 2014