CCND1, cyclin D1, 595

N. diseases: 859; N. variants: 12
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: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs3017621
rs3017621 		11 69642133 intron variant G/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3212880
rs3212880 		11 69648911 intron variant A/G snv 5.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3918292
rs3918292 		11 69642779 intron variant C/T snv 9.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019