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: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs560051377
rs560051377
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.010 1.000 1 2012 2012