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: rs2738464
rs2738464
3 1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80 0.700 1.000 2 2017 2018
dbSNP: rs7258950
rs7258950
2 19 11139463 intron variant A/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs34774090
rs34774090
1 19 11143211 intron variant A/- delins 0.77 0.700 1.000 1 2019 2019
dbSNP: rs5742911
rs5742911
3 19 11132769 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012