CDKN1A, cyclin dependent kinase inhibitor 1A, 1026

N. diseases: 490; N. variants: 17
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: rs3176326
rs3176326 		1.000 0.080 6 36679512 intron variant G/A snv 0.20
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs3176336
rs3176336 		0.925 0.080 6 36681039 intron variant A/T snv 0.54
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3176336
rs3176336 		0.925 0.080 6 36681039 intron variant A/T snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3176336
rs3176336 		0.925 0.080 6 36681039 intron variant A/T snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3176353
rs3176353 		6 36684828 intron variant C/T snv 3.2E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3176353
rs3176353 		6 36684828 intron variant C/T snv 3.2E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3829963
rs3829963 		1.000 0.080 6 36676609 intron variant C/A snv 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3829964
rs3829964 		1.000 0.080 6 36676721 intron variant T/C snv 0.60
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4135235
rs4135235 		0.925 0.080 6 36676795 intron variant A/T snv 7.2E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4135235
rs4135235 		0.925 0.080 6 36676795 intron variant A/T snv 7.2E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs733590
rs733590 		0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs733590
rs733590 		0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs733590
rs733590 		0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs762623
rs762623 		1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs762623
rs762623 		1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs866551255
rs866551255 		1.000 0.040 6 36684145 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs866551255
rs866551255 		1.000 0.040 6 36684145 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs1276639827
rs1276639827 		6 36684171 missense variant C/T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1276639827
rs1276639827 		6 36684171 missense variant C/T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014