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: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 2 2010 2017
dbSNP: rs11066028
rs11066028
2 1.000 0.080 12 111807366 intron variant A/C snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs4648328
rs4648328
1 12 111784984 intron variant C/T snv 0.18 0.700 1.000 1 2012 2012