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: rs7574865
rs7574865
8 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 1 2009 2017
dbSNP: rs3821236
rs3821236
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.800 1.000 2 2010 2019
dbSNP: rs7601754
rs7601754
2 0.882 0.160 2 191075725 intron variant G/A;T snv 0.800 1.000 1 2013 2013