RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
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: rs2854344
rs2854344 		0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2006
dbSNP: rs2854344
rs2854344 		0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2006
dbSNP: rs198580
rs198580 		0.925 0.080 13 48459611 intron variant G/A snv 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs198580
rs198580 		0.925 0.080 13 48459611 intron variant G/A snv 0.89
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2854355
rs2854355 		13 48308227 intron variant A/G snv 0.23
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs3092904
rs3092904 		1.000 0.080 13 48477345 intron variant T/A snv 0.24 0.20
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3092904
rs3092904 		1.000 0.080 13 48477345 intron variant T/A snv 0.24 0.20
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4151510
rs4151510 		1.000 0.080 13 48371039 intron variant G/A snv 0.11
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4151620
rs4151620 		0.925 0.080 13 48474923 intron variant C/G snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs4151620
rs4151620 		0.925 0.080 13 48474923 intron variant C/G snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs427686
rs427686 		1.000 0.080 13 48384180 intron variant C/T snv 0.77
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9568036
rs9568036 		1.000 0.080 13 48397800 intron variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9568036
rs9568036 		1.000 0.080 13 48397800 intron variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1060503088
rs1060503088 		1.000 0.080 13 48452981 intron variant T/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776791
rs587776791 		1.000 0.080 13 48471962 intron variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587781256
rs587781256 		1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587781256
rs587781256 		1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs9535023
rs9535023 		1.000 0.080 13 48380039 intron variant A/G;T snv 4.2E-02
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1131690863
rs1131690863 		1.000 0.080 13 48362847 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 10 1994 2016
dbSNP: rs3092891
rs3092891 		1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1989 2017
dbSNP: rs587778842
rs587778842 		1.000 0.080 13 48362859 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1994 2015
dbSNP: rs121913301
rs121913301 		1.000 0.080 13 48368549 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1995 2015
dbSNP: rs121913302
rs121913302 		1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1996 2018
dbSNP: rs121913300
rs121913300 		1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1994 2017
dbSNP: rs121913301
rs121913301 		1.000 0.080 13 48368549 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 8 1995 2016