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: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.040 0.500 4 2009 2011
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 < 0.001 1 2011 2011
dbSNP: rs796590326
rs796590326
5 0.851 0.200 12 121162449 missense variant GT/AC mnv 0.010 < 0.001 1 2011 2011