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: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2005 2005
dbSNP: rs374596032
rs374596032
1 2 8813255 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3749971
rs3749971
4 0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs3815087
rs3815087
8 0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs3823418
rs3823418
8 0.925 0.120 6 31133165 intron variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs4118325
rs4118325
1 1 107035210 intergenic variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs4324798
rs4324798
8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.700 1.000 1 2009 2009
dbSNP: rs527476195
rs527476195
6 0.925 0.120 6 31133165 intron variant G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs6467710
rs6467710
1 7 137519073 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs767830104
rs767830104
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs7756521
rs7756521
5 1.000 6 30880476 intron variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.800 1.000 1 2009 2009
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs919266
rs919266
1 19 17403506 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs9261290
rs9261290
10 0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06 0.700 1.000 1 2009 2009
dbSNP: rs9368699
rs9368699
8 0.851 0.200 6 31834764 non coding transcript exon variant T/C snv 3.2E-02 0.700 1.000 1 2009 2009