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: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 17 2007 2018
dbSNP: rs6720173
rs6720173
5 0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 0.030 1.000 3 2007 2010
dbSNP: rs6756629
rs6756629
5 0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02 0.010 1.000 1 2013 2013