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: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.860 0.800 10 2007 2019
dbSNP: rs11571316
rs11571316
2 0.925 0.160 2 203866366 upstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
dbSNP: rs370443546
rs370443546
1 1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05 0.020 1.000 2 2006 2007
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019