XRCC3, X-ray repair cross complementing 3, 7517

N. diseases: 184; N. variants: 24
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: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C3151417
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 		0.800 0
dbSNP: rs3212121
rs3212121 		14 103698185 3 prime UTR variant T/C snv 1.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3212121
rs3212121 		14 103698185 3 prime UTR variant T/C snv 1.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs861536
rs861536 		14 103701227 3 prime UTR variant A/G snv 0.28 0.30
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.889 27 2003 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.889 27 2003 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.636 22 2004 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.636 22 2004 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.636 22 2004 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.933 15 2004 2018
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 1.000 13 2004 2018
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.846 13 2004 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.846 13 2004 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.080 1.000 8 2009 2014
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.080 0.875 8 2012 2017
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.080 0.750 8 2004 2015
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.080 0.750 8 2004 2015
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 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 0.080 1.000 8 2009 2014
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.070 1.000 7 2008 2019
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.070 0.857 7 2011 2015
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.070 0.857 7 2003 2014
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.070 1.000 7 2009 2014
dbSNP: rs1799794
rs1799794 		0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2011 2017
dbSNP: rs1799794
rs1799794 		0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2011 2017
dbSNP: rs861539
rs861539 		0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.040 0.750 4 2011 2014