rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
C
0.800
CausalMutation
CLINVAR
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
0.800
GeneticVariation
UNIPROT
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
0.800
GeneticVariation
UNIPROT
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
26255102
2015
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
0.800
GeneticVariation
UNIPROT
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
25839420
2015
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
0.800
GeneticVariation
UNIPROT
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
25728776
2015
rs797045017
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
0.800
GeneticVariation
UNIPROT
rs797045017
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
A
0.800
CausalMutation
CLINVAR
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Dwarfism
C
0.700
CausalMutation
CLINVAR
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
PITUITARY DWARFISM I
C
0.700
CausalMutation
CLINVAR
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Speech Delay
C
0.700
CausalMutation
CLINVAR
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Normal motor development
C
0.700
CausalMutation
CLINVAR
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs587779351
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Short philtrum
C
0.700
CausalMutation
CLINVAR
Genomic analysis of primordial dwarfism reveals novel disease genes.
24389050
2014
rs6452524
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Hypertensive disease
0.700
GeneticVariation
GWASDB
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
21626137
2011
rs6887846
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Hypertensive disease
0.700
GeneticVariation
GWASDB
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
21626137
2011
rs768825050
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
T
0.700
CausalMutation
CLINVAR
rs779773463
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
T
0.700
CausalMutation
CLINVAR
rs797045016
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
T
0.700
CausalMutation
CLINVAR
rs869320677
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
T
0.700
CausalMutation
CLINVAR
rs869320678
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
T
0.700
CausalMutation
CLINVAR
rs879255258
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
G
0.700
CausalMutation
CLINVAR
rs879255259
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
A
0.700
CausalMutation
CLINVAR
rs1805377
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Carcinoma of bladder
0.030
GeneticVariation
BEFREE
The study was designed to examine the polymorphisms associated with two genes namely XRCC4 G1394T (rs6869366), intron 3 (rs28360317), intron 7 rs1805377 and rs2836007 and XRCC3 (rs861539 and rs1799796), respectively and investigate their role as susceptible markers for UBC risk in North Indian cohort.
21617942
2012
rs1805377
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
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
rs1805377
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
Glioma
0.030
GeneticVariation
BEFREE
However, no association was found between variants of LIG4 rs1805388, XRCC4 rs2075685 and XRCC4 rs1805377 and development of glioma .
25973104
2015
rs1805377
×
Entrez Id:
7518
Gene Symbol:
XRCC4
XRCC4
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