Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2015 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 < 0.001 2 2012 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.020 1.000 2 2014 2015
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2013 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2013 2015
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 1.000 2 2014 2015
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2013 2015
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2012 2016
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 < 0.001 2 2014 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 1.000 2 2013 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 1.000 2 2013 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2013 2015
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 < 0.001 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2011 2011
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0262972
Disease: Acute dermatitis
Acute dermatitis 		0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 < 0.001 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0948750
Disease: Salivary gland carcinoma
Salivary gland carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2009 2009
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.010 1.000 1 2016 2016
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 < 0.001 1 2018 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0699889
Disease: Malignant Female Reproductive System Neoplasm
Malignant Female Reproductive System Neoplasm 		0.010 < 0.001 1 2017 2017