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: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.790 1.000 12 2009 2019
dbSNP: rs121908261
rs121908261
5 0.851 0.120 11 2160809 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs3842753
rs3842753
1 1.000 0.120 11 2159830 missense variant T/G snv 0.73 0.60 0.010 1.000 1 2015 2015