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: rs2306283
rs2306283
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.020 1.000 2 2013 2014
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.020 1.000 2 2014 2019
dbSNP: rs11045819
rs11045819
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2014 2014