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: rs806371
rs806371
4 0.882 0.040 6 88146644 intron variant T/G snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs896686
rs896686
2 1.000 0.040 18 55455800 intron variant T/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11599236
rs11599236
2 1.000 0.040 10 104694914 intron variant T/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.710 1.000 2 2012 2013
dbSNP: rs4765914
rs4765914
2 0.925 0.040 12 2311211 intron variant T/C;G snv 0.800 1.000 2 2013 2019
dbSNP: rs10817969
rs10817969
1 1.000 0.040 9 116968766 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10904323
rs10904323
1 1.000 0.040 10 4706048 regulatory region variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10904332
rs10904332
1 1.000 0.040 10 4746246 downstream gene variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs12073845
rs12073845
1 1.000 0.040 1 80332225 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13071584
rs13071584
1 1.000 0.040 3 52770471 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs150952348
rs150952348
1 1.000 0.040 17 75828078 missense variant T/C;G snv 5.2E-04; 5.5E-06 0.700 1.000 1 2017 2017
dbSNP: rs2509805
rs2509805
1 1.000 0.040 11 57883324 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3819325
rs3819325
2 1.000 0.040 3 49806290 non coding transcript exon variant T/C;G snv 0.38; 7.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs41310573
rs41310573
1 1.000 0.040 1 248295464 missense variant T/C;G snv 2.3E-03; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs4346585
rs4346585
1 1.000 0.040 3 44695001 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4475190
rs4475190
1 1.000 0.040 4 138715045 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs62460873
rs62460873
2 1.000 0.040 7 85348650 intergenic variant T/C;G snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs6500030
rs6500030
1 1.000 0.040 16 59276838 intergenic variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs717454
rs717454
2 1.000 0.040 2 99406310 non coding transcript exon variant T/C;G snv 0.44; 8.2E-06 0.700 1.000 1 2013 2013
dbSNP: rs7174755
rs7174755
1 1.000 0.040 15 68304789 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs7585722
rs7585722
1 1.000 0.040 2 86592005 intron variant T/C;G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs76736233
rs76736233
1 1.000 0.040 6 65936845 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7775835
rs7775835
2 1.000 0.040 6 28710580 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs779867
rs779867
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs78337797
rs78337797
1 1.000 0.040 12 23834991 intron variant T/C;G snv 0.700 1.000 1 2019 2019