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: rs3017621
rs3017621
CCND1
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: 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: 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: 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: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0268381
Disease: Primary amyloidosis
Primary amyloidosis 		0.700 1.000 2 2017 2017
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 2 2013 2017
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: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm 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: 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: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		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: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		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: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		0.010 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: 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: 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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2018 2018