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: rs193024911
rs193024911
1 1.000 0.040 3 12151259 missense variant A/C;G snv 2.0E-05; 1.0E-04 0.010 1.000 1 2014 2014