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: 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: 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: 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: rs2227311
rs2227311 		0.925 0.080 13 48412896 5 prime UTR variant A/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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1221157259
rs1221157259 		0.882 0.080 13 48453069 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs587776789
rs587776789 		0.925 0.200 13 48349024 splice donor variant G/A;T snv
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121434308
rs121434308 		1.000 0.040 13 48411988 missense variant C/T snv 8.6E-06 7.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121434307
rs121434307 		0.925 0.040 13 48411862 missense variant T/A;C snv 3.2E-05; 8.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 1.000 1 2008 2008
dbSNP: rs121434309
rs121434309 		1.000 0.040 13 48411859 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs879255262
rs879255262 		1.000 0.040 13 48412236 missense variant T/A;C snv
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs115596308
rs115596308 		1.000 0.040 13 48411837 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434306
rs121434306 		1.000 0.040 13 48411961 stop gained G/A snv
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1566212378
rs1566212378 		1.000 0.040 13 48412050 frameshift variant TT/- delins
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2227311
rs2227311 		0.925 0.080 13 48412896 5 prime UTR variant A/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: 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: rs1221157259
rs1221157259 		0.882 0.080 13 48453069 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs968643096
rs968643096 		1.000 0.080 13 48453041 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
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: rs137853294
rs137853294 		0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs587776783
rs587776783 		0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121913296
rs121913296 		1.000 0.080 13 48345108 stop gained G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014