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: rs11571316
rs11571316
2 0.925 0.160 2 203866366 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3024974
rs3024974
1 1.000 0.040 12 57098962 non coding transcript exon variant G/A snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs7567833
rs7567833
1 1.000 0.040 2 3643958 missense variant A/G snv 8.4E-02 0.23 0.010 1.000 1 2015 2015