Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12484776
rs12484776
1.000 22 40256869 intron variant A/G snv 0.19
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.820 1.000 3 2011 2018
dbSNP: rs12483853
rs12483853
1.000 0.080 22 40143521 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12484776
rs12484776
1.000 22 40256869 intron variant A/G snv 0.19
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2011 2011
dbSNP: rs12484951
rs12484951
1.000 22 40307071 intron variant T/G snv 0.20
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs12484951
rs12484951
1.000 22 40307071 intron variant T/G snv 0.20
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2018 2018
dbSNP: rs3830738
rs3830738
1.000 22 40315223 intron variant -/T delins 0.22
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs3830738
rs3830738
1.000 22 40315223 intron variant -/T delins 0.22
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2019 2019
dbSNP: rs4402860
rs4402860
1.000 22 40158441 intron variant A/G;T snv 0.17
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs4402860
rs4402860
1.000 22 40158441 intron variant A/G;T snv 0.17
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2018 2018
dbSNP: rs4821939
rs4821939
1.000 22 40263247 intron variant T/A snv 0.20
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4821939
rs4821939
1.000 22 40263247 intron variant T/A snv 0.20
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2019 2019
dbSNP: rs58133635
rs58133635
1.000 0.080 22 40075184 intron variant C/T snv 0.34
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9611280
rs9611280
1.000 0.120 22 40156115 missense variant G/A;T snv 6.8E-02; 5.1E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9623117
rs9623117
0.851 0.200 22 40056115 intron variant T/C snv 0.38
Squamous cell carcinoma of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9623117
rs9623117
0.851 0.200 22 40056115 intron variant T/C snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs9623117
rs9623117
0.851 0.200 22 40056115 intron variant T/C snv 0.38
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs9623117
rs9623117
0.851 0.200 22 40056115 intron variant T/C snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs4820408
rs4820408
22 40208941 intron variant T/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2015 2018
dbSNP: rs4821940
rs4821940
22 40263569 intron variant T/C snv 0.45
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms
0.700 1.000 3 2016 2017
dbSNP: rs139913
rs139913
22 40317857 intron variant T/A snv 0.69
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2017 2018
dbSNP: rs11301805
rs11301805
22 40196077 intron variant TTT/-;T;TT;TTTT;TTTTTTTTT delins 0.68
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs12484438
rs12484438
22 40162060 intron variant T/C snv 0.29
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs12628051
rs12628051
22 40258272 intron variant T/C snv 0.31
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs139055942
rs139055942
22 40318352 intron variant C/G snv 4.1E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2019 2019
dbSNP: rs139909
rs139909
22 40301577 intron variant C/T snv 0.74
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2009 2009