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 0.090 0.889 9 2009 2019
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.020 1.000 2 2011 2012
dbSNP: rs1653625
rs1653625
1 12 121185082 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013