CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
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: rs3759216
rs3759216 		0.925 0.080 12 12715152 intron variant G/A snv 0.38
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs3759216
rs3759216 		0.925 0.080 12 12715152 intron variant G/A snv 0.38
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs35756741
rs35756741 		12 12715767 intron variant C/T snv 7.0E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs786201010
rs786201010 		1.000 0.120 12 12717384 5 prime UTR variant TTCC/- delins
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs551236750
rs551236750 		1.000 0.040 12 12717760 5 prime UTR variant C/T snv 2.1E-04
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.700 0
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2013
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2013
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C3714651
Disease: Follicular Variant Thyroid Gland Papillary Carcinoma
Follicular Variant Thyroid Gland Papillary Carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs34330
rs34330 		0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs774454456
rs774454456 		0.925 0.120 12 12717808 5 prime UTR variant AGAG/- delins 3.8E-04 3.8E-04
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs774454456
rs774454456 		0.925 0.120 12 12717808 5 prime UTR variant AGAG/- delins 3.8E-04 3.8E-04
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.700 0
dbSNP: rs1060500186
rs1060500186 		1.000 0.120 12 12717887 frameshift variant GACG/- delins
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs786201007
rs786201007 		1.000 0.120 12 12717896 frameshift variant -/AGGCGGAGCACCCCAAGCC delins
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs797044481
rs797044481 		12 12717966 stop gained C/TAA delins
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		Neoplasms 0.700 0