XRCC5, X-ray repair cross complementing 5, 7520

N. diseases: 113; N. variants: 12
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: rs3835
rs3835 		0.882 0.120 2 216201914 intron variant G/A snv 0.21
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2009 2012
dbSNP: rs828907
rs828907 		0.827 0.160 2 216108009 intron variant G/T snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2012
dbSNP: rs828907
rs828907 		0.827 0.160 2 216108009 intron variant G/T snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2012
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387 		0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs16855458
rs16855458 		0.925 0.120 2 216146098 intron variant C/A snv 0.16
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs16855458
rs16855458 		0.925 0.120 2 216146098 intron variant C/A snv 0.16
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2011 2011
dbSNP: rs207906
rs207906 		1.000 0.080 2 216148178 synonymous variant A/G snv 0.88 0.88
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs207936
rs207936 		1.000 0.040 2 216175310 non coding transcript exon variant C/T snv 0.24
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3770502
rs3770502 		1.000 0.040 2 216180336 intron variant C/T snv 0.12
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3821104
rs3821104 		1.000 0.040 2 216193123 intron variant G/A snv 0.72
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3835
rs3835 		0.882 0.120 2 216201914 intron variant G/A snv 0.21
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3835
rs3835 		0.882 0.120 2 216201914 intron variant G/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3835
rs3835 		0.882 0.120 2 216201914 intron variant G/A snv 0.21
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs80309960
rs80309960 		0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs80309960
rs80309960 		0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs80309960
rs80309960 		0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs80309960
rs80309960 		0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013