XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		C 0.800 CausalMutation CLINVAR
dbSNP: rs797045017
rs797045017
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT
dbSNP: rs797045017
rs797045017
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		A 0.800 CausalMutation CLINVAR
dbSNP: rs768825050
rs768825050
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs779773463
rs779773463
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797045016
rs797045016
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869320677
rs869320677
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869320678
rs869320678
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255258
rs879255258
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		G 0.700 CausalMutation CLINVAR
dbSNP: rs879255259
rs879255259
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1805377
rs1805377
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.010 GeneticVariation BEFREE As for XRCC4 (rs1805377) polymorphism, no difference was found in distribution between the ESCC and control groups. 26166223 2016
dbSNP: rs7727691
rs7727691
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs7727691
rs7727691
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs7727691
rs7727691
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs2075686
rs2075686
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs2075686
rs2075686
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs2075686
rs2075686
Entrez Id: 7518;153339
Gene Symbol: XRCC4;TMEM167A
XRCC4;TMEM167A
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs3734091
rs3734091
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs3734091
rs3734091
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs3734091
rs3734091
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs28360317
rs28360317
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs28360317
rs28360317
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs28360317
rs28360317
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE As for XRCC4 C-1622T (rs7727691), G-652T (rs2075685), C-571T (rs2075686), intron3 DIP (rs28360071), S247A (rs3734091) and intron7 DIP (rs28360317) polymorphism sites, there was no difference in the distribution between the lung cancer and control groups. 19729825 2009
dbSNP: rs1805377
rs1805377
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0699885
Disease:
Carcinoma of bladder 		0.030 GeneticVariation BEFREE Carriers of a putative functional SNP in intron 7 of XRCC4 (rs1,805,377) had significantly increased bladder cancer risk compared with common homozygotes: 1.33 (1.08-1.64) per variant allele. 17557904 2007
dbSNP: rs1805377
rs1805377
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder 		0.030 GeneticVariation BEFREE Carriers of a putative functional SNP in intron 7 of XRCC4 (rs1,805,377) had significantly increased bladder cancer risk compared with common homozygotes: 1.33 (1.08-1.64) per variant allele. 17557904 2007