XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
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: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 1.000 4 2014 2015
dbSNP: rs797045017
rs797045017 		1.000 5 83195936 missense variant G/A;T snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 0
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2014 2014
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C1851057
Disease: Normal motor development
Normal motor development 		0.700 1.000 1 2014 2014
dbSNP: rs587779351
rs587779351 		0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05
CUI: C0241210
Disease: Speech Delay
Speech Delay 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs6452524
rs6452524 		5 83137962 intron variant G/A snv 0.49
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6887846
rs6887846 		5 83140542 intron variant G/A snv 0.49
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs768825050
rs768825050 		1.000 5 83204849 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs779773463
rs779773463 		1.000 5 83195935 stop gained C/T snv 8.1E-06 4.2E-05
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs797045016
rs797045016 		1.000 5 83258607 stop gained C/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs869320677
rs869320677 		1.000 5 83104943 frameshift variant C/- delins
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs869320678
rs869320678 		1.000 5 83104909 splice acceptor variant G/T snv
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255258
rs879255258 		1.000 5 83111134 missense variant T/A;G snv 4.1E-06
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs879255259
rs879255259 		1.000 5 83258544 frameshift variant G/- del
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.700 0
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.030 0.667 3 2013 2017
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2007 2013
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2007 2013
dbSNP: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.333 3 2012 2018
dbSNP: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.333 3 2012 2018
dbSNP: rs6869366
rs6869366 		0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2009 2013
dbSNP: rs6869366
rs6869366 		0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2009 2013
dbSNP: rs1056503
rs1056503 		0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1056503
rs1056503 		0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013