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: rs2283728
rs2283728
1 1.000 0.040 X 43773881 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3027440
rs3027440
1 1.000 0.040 X 43767234 3 prime UTR variant A/G snv 2.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs56220155
rs56220155
1 1.000 0.040 X 43773915 intron variant T/C snv 0.30 0.010 1.000 1 2016 2016