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: rs1799794
rs1799794 		0.763 0.320 14 103712930 splice region variant T/C snv 0.22
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2011 2016
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2011 2016
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
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 2012 2012
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799796
rs1799796 		0.790 0.240 14 103699590 intron variant T/A;C snv 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28903081
rs28903081 		0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs28903081
rs28903081 		0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs28903081
rs28903081 		0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs28903081
rs28903081 		0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28903081
rs28903081 		0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3212057
rs3212057 		0.925 0.080 14 103707128 missense variant C/T snv 1.4E-03 6.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs3212057
rs3212057 		0.925 0.080 14 103707128 missense variant C/T snv 1.4E-03 6.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs3212079
rs3212079 		1.000 0.080 14 103704128 3 prime UTR variant G/A snv 5.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs3212112
rs3212112 		1.000 0.040 14 103699345 intron variant A/C snv 7.1E-03 2.2E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2015 2015
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: rs45603942
rs45603942 		0.925 0.080 14 103712895 5 prime UTR variant G/A snv 1.2E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs45603942
rs45603942 		0.925 0.080 14 103712895 5 prime UTR variant G/A snv 1.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs546983534
rs546983534 		14 103708630 missense variant G/A snv 2.8E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs709399
rs709399 		0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs709399
rs709399 		0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs709399
rs709399 		0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017