Source: BEFREE

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: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.710 1.000 1 2013 2017
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		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: 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: C0017638
Disease: Glioma
Glioma 		0.020 1.000 2 2017 2019
dbSNP: rs1340132260
rs1340132260
CCND1
0.925 0.080 11 69641336 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
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: rs1944129
rs1944129
CCND1
1.000 0.120 11 69639167 upstream gene variant C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs3212879
rs3212879
CCND1
11 69648711 intron variant GG/-;G delins 0.44
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
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: 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: 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: rs603965
rs603965
CCND1
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 		0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2016 2016
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 1.000 1 2014 2014
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: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2014 2014
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2006 2006
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: rs678653
rs678653
CCND1
0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2016 2016
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: rs678653
rs678653
CCND1
0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2016 2016
dbSNP: rs678653
rs678653
CCND1
0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2011 2011