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: rs4299376
rs4299376
6 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 4 2010 2019
dbSNP: rs4953023
rs4953023
5 0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02 0.800 1.000 2 2012 2019
dbSNP: rs6544713
rs6544713
5 0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75 0.800 1.000 2 2009 2019
dbSNP: rs4245791
rs4245791
4 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.800 1.000 1 2013 2019
dbSNP: rs6756629
rs6756629
4 0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02 0.800 1.000 1 2009 2009
dbSNP: rs17031710
rs17031710
4 2 43843754 intron variant A/T snv 2.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs4148217
rs4148217
3 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218
3 2 43872443 intron variant G/A snv 0.22 0.700 1.000 1 2012 2012