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: 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: rs9288518
rs9288518 		0.776 0.240 2 216196997 intron variant A/G snv 0.35
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: 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: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2011 2011
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: 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: 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
dbSNP: rs828907
rs828907 		0.827 0.160 2 216108009 intron variant G/T snv 0.37
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs828907
rs828907 		0.827 0.160 2 216108009 intron variant G/T snv 0.37
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs9288518
rs9288518 		0.776 0.240 2 216196997 intron variant A/G snv 0.35
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
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: 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: 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: rs828704
rs828704 		1.000 0.040 2 216128888 intron variant C/A snv 0.81
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs9288516
rs9288516 		0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
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: 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