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: rs4759375
rs4759375
3 12 123311691 intron variant C/T snv 7.8E-02 0.800 1.000 5 2010 2019
dbSNP: rs10773003
rs10773003
1 12 123290580 3 prime UTR variant G/A snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7298909
rs7298909
2 12 123346392 intron variant C/T snv 0.89 0.700 1.000 1 2019 2019