Source: CURATED ×
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: rs17401966
rs17401966
2 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 2 2010 2019
dbSNP: rs2596542
rs2596542
5 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.900 1.000 2 2011 2019
dbSNP: rs7574865
rs7574865
11 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.909 1 2013 2019
dbSNP: rs9275319
rs9275319
1 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.850 0.800 1 2013 2018
dbSNP: rs9275572
rs9275572
9 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.840 1.000 2 2011 2017
dbSNP: rs121913409
rs121913409
9 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.820 1.000 1 2016 2018
dbSNP: rs4678680
rs4678680
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 2 2010 2016
dbSNP: rs121913407
rs121913407
10 0.763 0.240 3 41224645 missense variant T/C;G snv 0.810 1.000 1 2015 2016
dbSNP: rs121913413
rs121913413
10 0.763 0.240 3 41224634 missense variant C/A;T snv 0.810 1.000 1 2015 2016
dbSNP: rs455804
rs455804
1 1.000 0.080 21 29773850 intron variant A/C;G snv 0.810 1.000 1 2012 2012
dbSNP: rs9272105
rs9272105
2 0.925 0.120 6 32632222 intron variant G/A snv 0.55 0.810 1.000 1 2012 2015
dbSNP: rs121913274
rs121913274
30 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 2 2005 2016
dbSNP: rs121913228
rs121913228
11 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
11 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
10 0.724 0.200 3 41224612 missense variant G/A;C snv 0.800 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
14 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
10 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs28931588
rs28931588
14 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.800 1.000 1 2016 2016
dbSNP: rs28934571
rs28934571
4 0.645 0.360 17 7674216 missense variant C/A;G snv 0.800 1.000 0 1994 2020
dbSNP: rs1012068
rs1012068
2 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 1 2013 2019
dbSNP: rs2856718
rs2856718
6 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.750 1.000 1 2012 2017
dbSNP: rs17047200
rs17047200
1 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.740 1.000 1 2017 2019
dbSNP: rs3077
rs3077
4 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.740 0.600 1 2011 2015
dbSNP: rs7453920
rs7453920
6 0.752 0.440 6 32762235 intron variant A/G;T snv 0.740 0.800 1 2012 2018