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: rs4823006
rs4823006
5 22 29055683 3 prime UTR variant A/G snv 0.41 0.800 1.000 2 2010 2019
dbSNP: rs2294239
rs2294239
4 22 29053489 intron variant A/G snv 0.36 0.700 1.000 3 2018 2019
dbSNP: rs115770674
rs115770674
1 22 28860678 intergenic variant G/A snv 6.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2179129
rs2179129
2 22 29054935 3 prime UTR variant A/G snv 0.34 0.700 1.000 1 2015 2015