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: rs970548
rs970548
3 10 45517829 intron variant A/C;T snv 0.800 1.000 2 2013 2017
dbSNP: rs11239544
rs11239544
1 10 45512085 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs145976573
rs145976573
1 10 45483784 intron variant -/TGTTAAGTCAAATAA;TGTTAAGTGAAATAA delins 0.700 1.000 1 2018 2018