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: rs68081839
rs68081839
3 0.882 0.080 11 105762027 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs201203751
rs201203751
3 0.925 0.040 5 39203496 intron variant TT/-;T;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs200312707
rs200312707
2 1.000 0.040 16 62031776 intron variant TA/- del 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2012 2017
dbSNP: rs1800866
rs1800866
8 0.851 0.080 9 34637693 missense variant T/G snv 0.20 0.18 0.020 1.000 2 2010 2017
dbSNP: rs4543289
rs4543289
1 1.000 0.040 5 165057942 non coding transcript exon variant T/G snv 0.57 0.700 1.000 2 2016 2018
dbSNP: rs1045430
rs1045430
1 1.000 0.040 14 74663532 3 prime UTR variant T/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10521261
rs10521261
1 1.000 0.040 16 52266343 intron variant T/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs10929355
rs10929355
1 1.000 0.040 2 15258840 intron variant T/G snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs10959913
rs10959913
1 1.000 0.040 9 11544964 intergenic variant T/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11214607
rs11214607
2 1.000 0.040 11 113441417 intron variant T/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs112610420
rs112610420
1 1.000 0.040 19 14765351 missense variant T/G snv 9.5E-04 2.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs117198528
rs117198528
3 1.000 0.040 18 49694188 intergenic variant T/G snv 1.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12325410
rs12325410
5 0.851 0.040 16 9581389 intron variant T/G snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs12457810
rs12457810
1 1.000 0.040 18 9088652 intergenic variant T/G snv 7.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs13413953
rs13413953
2 1.000 0.040 2 143479467 intron variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1364043
rs1364043
2 0.925 0.040 5 63955024 downstream gene variant T/G snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs144733372
rs144733372
4 0.882 0.120 17 45486856 intron variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1488864
rs1488864
4 0.851 0.080 11 6321099 intron variant T/G snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs149702363
rs149702363
2 0.925 0.120 6 29257248 intron variant T/G snv 3.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs150814685
rs150814685
2 0.925 0.120 6 28728995 upstream gene variant T/G snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1513105
rs1513105
1 1.000 0.040 12 70704388 intron variant T/G snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1542212
rs1542212
2 1.000 0.040 3 35642443 intron variant T/G snv 0.36 0.700 1.000 1 2018 2018