POU5F1B, POU class 5 homeobox 1B, 5462

N. diseases: 36; N. variants: 21
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: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.900 0.945 55 2007 2019
dbSNP: rs10505477
rs10505477 		0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.890 0.938 16 2007 2019
dbSNP: rs7014346
rs7014346 		0.732 0.240 8 127412547 intron variant A/G snv 0.63
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.830 0.889 9 2008 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.800 0.871 31 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.800 0.857 28 2007 2017
dbSNP: rs13281615
rs13281615 		0.716 0.360 8 127343372 intron variant A/G snv 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0.864 22 2007 2017
dbSNP: rs13281615
rs13281615 		0.716 0.360 8 127343372 intron variant A/G snv 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0.850 20 2007 2016
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.770 1.000 21 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.760 0.857 7 2010 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.730 1.000 17 2007 2019
dbSNP: rs1562430
rs1562430 		0.807 0.160 8 127375606 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 5 2010 2015
dbSNP: rs1562430
rs1562430 		0.807 0.160 8 127375606 intron variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 5 2010 2015
dbSNP: rs620861
rs620861 		0.925 0.080 8 127323428 intron variant G/A snv 0.36
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.730 0.750 4 2008 2017
dbSNP: rs7837328
rs7837328 		0.882 0.120 8 127410882 intron variant A/G snv 0.52
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.720 1.000 4 2008 2014
dbSNP: rs7837328
rs7837328 		0.882 0.120 8 127410882 intron variant A/G snv 0.52
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.720 1.000 3 2008 2015
dbSNP: rs7014346
rs7014346 		0.732 0.240 8 127412547 intron variant A/G snv 0.63
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.710 1.000 3 2008 2015
dbSNP: rs7013278
rs7013278 		0.776 0.080 8 127402647 intron variant T/C snv 0.59
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2012 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 14 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 14 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 14 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 14 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 14 2007 2019
dbSNP: rs6983267
rs6983267 		0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 14 2007 2019
dbSNP: rs10505477
rs10505477 		0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2007 2018
dbSNP: rs10505477
rs10505477 		0.658 0.400 8 127395198 intron variant A/G snv 0.40
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2007 2018