XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
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: rs1395746092
rs1395746092 		19 43575449 missense variant T/C snv 7.0E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2004 2004
dbSNP: rs2307184
rs2307184 		19 43546079 missense variant G/T snv 3.0E-04 4.3E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3213250
rs3213250 		19 43574077 intron variant ATTTT/- delins 5.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs761564262
rs761564262 		1.000 19 43546884 missense variant C/G snv 3.2E-05
CUI: C4539948
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 		0.700 1.000 1 2017 2017
dbSNP: rs139834892
rs139834892 		0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs139834892
rs139834892 		0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
CUI: C0242006
Disease: Myelofibrosis due to another disorder
Myelofibrosis due to another disorder 		0.010 1.000 1 2018 2018
dbSNP: rs139834892
rs139834892 		0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2228487
rs2228487 		1.000 0.040 19 43554740 missense variant C/A;T snv 4.0E-06; 4.9E-04
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs763281108
rs763281108 		1.000 0.040 19 43553617 missense variant G/A snv 4.1E-06
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2293035
rs2293035 		0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2019
dbSNP: rs1001581
rs1001581 		1.000 0.080 19 43561236 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1041258260
rs1041258260 		0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041258260
rs1041258260 		0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2293035
rs2293035 		0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2293035
rs2293035 		0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2293036
rs2293036 		1.000 0.080 19 43553896 intron variant G/A snv 7.0E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs25486
rs25486 		0.925 0.080 19 43551746 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs25486
rs25486 		0.925 0.080 19 43551746 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs377566281
rs377566281 		0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs377566281
rs377566281 		0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs377566281
rs377566281 		0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs774388757
rs774388757 		1.000 0.080 19 43553421 missense variant C/T snv 2.0E-05 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs775174909
rs775174909 		1.000 0.080 19 43546720 missense variant T/C snv 4.1E-06
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs777272152
rs777272152 		0.925 0.080 19 43552176 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777272152
rs777272152 		0.925 0.080 19 43552176 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012