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: rs1075650
rs1075650
1 9 129176634 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1212415280
rs1212415280
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs16918875
rs16918875
1 8 53229594 synonymous variant G/A snv 4.3E-02 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1875999
rs1875999
1 5 76969157 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2073837
rs2073837
1 9 133657806 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs382140
rs382140
1 7 108141755 intergenic variant A/G snv 0.74 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: rs772527880
rs772527880
1 2 227531108 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs963549
rs963549
1 8 53229264 synonymous variant C/T snv 0.17 0.24 0.010 1.000 1 2012 2012
dbSNP: rs1040288
rs1040288
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs1409568
rs1409568
2 1.000 0.040 10 118871273 intron variant T/C snv 8.2E-02 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: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs1611131
rs1611131
3 0.925 0.080 9 133657065 splice region variant A/G snv 0.28; 4.0E-06 0.25 0.010 1.000 1 2018 2018
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17664708
rs17664708
2 1.000 0.080 8 32579499 intron variant C/T snv 1.0E-01 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: 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: 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