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: rs118192249
rs118192249
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009