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: rs1875999
rs1875999
1 5 76969157 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2070762
rs2070762
TH
5 0.925 0.080 11 2165105 intron variant A/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs2073837
rs2073837
1 9 133657806 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs230530
rs230530
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3025684
rs3025684
2 1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15 0.010 1.000 1 2011 2011
dbSNP: rs3495
rs3495
3 0.925 0.160 3 165773193 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs382140
rs382140
1 7 108141755 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2020 2020
dbSNP: rs4648318
rs4648318
2 1.000 0.080 11 113442667 intron variant T/C snv 0.33 0.010 1.000 1 2020 2020
dbSNP: rs604300
rs604300
3 1.000 0.080 3 127724009 intron variant A/G snv 0.91 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2017 2017
dbSNP: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs702764
rs702764
4 0.925 0.120 8 53229597 synonymous variant T/C;G snv 0.17; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs7118900
rs7118900
1 11 113396099 missense variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs75012854
rs75012854
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs751416416
rs751416416
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs764987358
rs764987358
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004