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: rs142833529
rs142833529
1 1.000 0.120 12 12718195 missense variant T/A;C;G snv 1.2E-05; 5.3E-04 0.010 1.000 1 2012 2012