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: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.020 1.000 2 2007 2017
dbSNP: rs4149013
rs4149013
3 0.882 0.120 12 21129476 intron variant A/G snv 5.0E-02 0.010 1.000 1 2009 2009