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: rs4430796
rs4430796
11 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.870 1.000 7 2009 2019
dbSNP: rs121918673
rs121918673
2 0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 0.810 1.000 1 2002 2013
dbSNP: rs7501939
rs7501939
9 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.720 1.000 2 2010 2019
dbSNP: rs121918672
rs121918672
2 0.925 0.200 17 37731814 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2229295
rs2229295
1 1.000 0.080 17 37687273 3 prime UTR variant G/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2015 2015