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: 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: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.730 0.750 4 2004 2019
dbSNP: rs34327
rs34327 		12 12720814 intron variant T/C snv 0.50
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs34327
rs34327 		12 12720814 intron variant T/C snv 0.50
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs34327
rs34327 		12 12720814 intron variant T/C snv 0.50
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
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: 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: rs121917832
rs121917832 		0.925 0.200 12 12718066 stop gained G/A snv
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: rs1555085575
rs1555085575 		1.000 0.120 12 12718118 frameshift variant -/C 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: rs532903617
rs532903617 		1.000 0.120 12 12718106 stop gained C/G;T snv 4.0E-06 1.4E-05
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: 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: rs777354267
rs777354267 		1.000 0.120 12 12718045 missense variant C/T snv 4.0E-06 2.1E-05
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: 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: rs786201011
rs786201011 		1.000 0.120 12 12718211 frameshift variant CT/- 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
dbSNP: rs797044482
rs797044482 		12 12718118 frameshift variant -/T ins
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		Neoplasms 0.700 0
dbSNP: rs797044483
rs797044483 		12 12718173 frameshift variant A/- del
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		Neoplasms 0.700 0
dbSNP: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 0.667 3 2004 2019
dbSNP: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.030 1.000 3 2014 2015
dbSNP: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2005 2014
dbSNP: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2006 2014
dbSNP: rs2066827
rs2066827 		0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2006 2014