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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2009 2019
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2009 2017
dbSNP: rs1179225338
rs1179225338
4 0.851 0.120 9 117713505 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019