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: rs1414334
rs1414334
5 0.851 0.160 X 114903581 intron variant C/G snv 0.050 0.800 5 2007 2018
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.030 1.000 3 2007 2018
dbSNP: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2018 2018