Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs3212880
rs3212880
CCND1
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
CCND1
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
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1340132260
rs1340132260
CCND1
0.925 0.080 11 69641336 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs34507830
rs34507830
CCND1
1.000 0.080 11 69646918 intron variant C/T snv 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2014 2014
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.040 1.000 4 2009 2018
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.040 1.000 4 2009 2018
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs766170770
rs766170770
CCND1
0.925 0.080 11 69641374 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs9344
rs9344
CCND1
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 		0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0017638
Disease: Glioma
Glioma 		0.020 1.000 2 2017 2019
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs678653
rs678653
CCND1
0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018