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: rs117747069
rs117747069
4 16 120077 intron variant G/C snv 2.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs2238368
rs2238368
4 16 120329 intron variant C/T snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs7203560
rs7203560
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.700 1.000 1 2013 2013