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: rs121434264
rs121434264
6 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs149383809
rs149383809
2 0.925 0.120 11 64805722 missense variant T/A snv 7.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs2072407
rs2072407
1 1.000 0.040 7 148811741 non coding transcript exon variant A/C;G;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs78589034
rs78589034
1 1.000 0.040 7 148811726 splice region variant G/A snv 1.9E-03 2.0E-03 0.010 1.000 1 2016 2016