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: rs750835733
rs750835733
1 1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2013 2013