STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
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: rs11191841
rs11191841 		10 103879853 3 prime UTR variant T/C snv 0.47
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs11191841
rs11191841 		10 103879853 3 prime UTR variant T/C snv 0.47
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs11191841
rs11191841 		10 103879853 3 prime UTR variant T/C snv 0.47
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958 		0.851 0.040 10 103916188 intron variant T/C snv 0.75
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12765878
rs12765878 		0.925 0.160 10 103909864 intron variant T/A;C snv
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12765878
rs12765878 		0.925 0.160 10 103909864 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2487999
rs2487999 		10 103900068 missense variant T/A;C snv 4.0E-06; 0.91
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2487999
rs2487999 		10 103900068 missense variant T/A;C snv 4.0E-06; 0.91
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs10883944
rs10883944 		1.000 0.040 10 103891899 intron variant G/T snv 0.31
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2019 2019
dbSNP: rs10883944
rs10883944 		1.000 0.040 10 103891899 intron variant G/T snv 0.31
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11191847
rs11191847 		10 103890868 intron variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs10786774
rs10786774 		10 103884565 intron variant G/C snv 0.90
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11191865
rs11191865 		0.925 0.160 10 103913084 intron variant G/A snv 0.44
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1570221
rs1570221 		1.000 0.040 10 103897116 intron variant G/A snv 0.29
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2067832
rs2067832 		10 103883376 intron variant G/A snv 0.44
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2995264
rs2995264 		0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2995264
rs2995264 		0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2995264
rs2995264 		0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2995264
rs2995264 		0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015