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: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.100 0.833 18 2012 2019
dbSNP: rs34481144
rs34481144
1 1.000 0.080 11 320836 5 prime UTR variant C/T snv 0.36 0.34 0.010 1.000 1 2017 2017