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: rs147483928
rs147483928
1 1.000 0.120 1 207331134 missense variant A/G snv 1.2E-04 1.7E-04 0.010 1.000 1 2007 2007