STAG3, stromal antigen 3, 10734

N. diseases: 27; N. variants: 14
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: rs17250196
rs17250196 		7 100219573 3 prime UTR variant G/A;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs17250196
rs17250196 		7 100219573 3 prime UTR variant G/A;T snv
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4727449
rs4727449 		1.000 0.080 7 100188127 intron variant C/T snv 0.11
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7799441
rs7799441 		7 100178649 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs79246196
rs79246196 		0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2017 2017
dbSNP: rs79246196
rs79246196 		0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs79246196
rs79246196 		0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs79246196
rs79246196 		0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1333017606
rs1333017606 		1.000 0.080 7 100175622 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs376787666
rs376787666 		1.000 7 100199372 splice region variant G/A snv 1.2E-05 1.4E-05
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs587777267
rs587777267 		1.000 7 100188862 frameshift variant C/- delins
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs764841861
rs764841861 		0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C0021361
Disease: Female infertility
Female infertility 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs764841861
rs764841861 		0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs764841861
rs764841861 		0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary 		0.700 0
dbSNP: rs869320765
rs869320765 		1.000 7 100200852 frameshift variant -/CT delins
CUI: C3810367
Disease: PREMATURE OVARIAN FAILURE 8
PREMATURE OVARIAN FAILURE 8 		0.700 0
dbSNP: rs1052482
rs1052482 		1.000 0.040 7 100214213 3 prime UTR variant A/T snv 0.69
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11531577
rs11531577 		1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11531577
rs11531577 		1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1161498711
rs1161498711 		7 100198492 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1727130
rs1727130 		1.000 0.040 7 100213841 intron variant C/G;T snv 0.67; 1.6E-05
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		Male Urogenital Diseases 0.010 1.000 1 2020 2020
dbSNP: rs751680143
rs751680143 		7 100198542 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2019 2019