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: rs137875858
rs137875858
2 0.925 0.080 4 95170280 missense variant G/A snv 2.9E-04 2.6E-04 0.720 1.000 3 2014 2016
dbSNP: rs1196772897
rs1196772897
1 1.000 0.080 4 95301704 missense variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs145155041
rs145155041
1 1.000 0.080 4 95242480 missense variant C/G;T snv 4.0E-06; 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs779272234
rs779272234
1 1.000 0.080 4 95170257 missense variant T/C snv 8.7E-05 3.5E-05 0.010 1.000 1 2014 2014