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: rs3840634
rs3840634
2 0.925 0.120 7 116556798 intron variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs41279104
rs41279104
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs426496
rs426496
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012
dbSNP: rs4947296
rs4947296
5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.010 1.000 1 2008 2008
dbSNP: rs77485247
rs77485247
3 0.925 0.080 18 24460578 upstream gene variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2013 2013