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: rs1057317
rs1057317
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs12377632
rs12377632
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs1927914
rs1927914
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs5030719
rs5030719
1 1.000 0.080 9 117713658 missense variant G/C;T snv 2.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs5030728
rs5030728
7 0.807 0.160 9 117712004 intron variant G/A;T snv 0.23 0.010 1.000 1 2019 2019