rs1417210
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Vitiligo
0.810
GeneticVariation
GWASCAT
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
22951725
2013
rs1417210
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Vitiligo
0.810
GeneticVariation
BEFREE
We identified three susceptibility loci, 12q13.2 (rs10876864, P(combined)=8.07 × 10(-12), odds ratio (OR)=1.18), 11q23.3 (rs638893, P(combined)=2.47 × 10(-9), OR=1.22), and 10q22.1 (rs1417210 , P(combined)=1.83 × 10(-8), OR=0.88), and confirmed three previously reported loci for vitiligo , 3q28 (rs9851967, P(combined)=8.57 × 10(-8), OR=0.88), 10p15.1 (rs3134883, P(combined)=1.01 × 10(-5), OR=1.11), and 22q12.3 (rs2051582, P(combined)=2.12 × 10(-5), OR=1.14), in the Chinese Han population.
22951725
2013
rs1417210
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Vitiligo
0.810
GeneticVariation
GWASDB
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
22951725
2013
rs121912584
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
H syndrome: 5 new cases from the United States with novel features and responses to therapy.
29041934
2017
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
24894595
2015
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs121912584
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs267607057
SLC29A3;LOC105378353
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs267607058
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs387907066
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs387907067
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
21888995
2012
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs121912584
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs121912584
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs267607057
SLC29A3;LOC105378353
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs267607058
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs387907066
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs387907067
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Expanding the clinical spectrum of SLC29A3 gene defects.
20619369
2011
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
20140240
2010
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
19889517
2010
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
20595384
2010
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
20399510
2010
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
0.800
GeneticVariation
UNIPROT
H syndrome: novel and recurrent mutations in SLC29A3.
20199539
2010
rs121912583
×
Entrez Id:
55315
Gene Symbol:
SLC29A3
SLC29A3
Histiocytosis with joint contractures and sensorineural deafness
A
0.800
CausalMutation
CLINVAR
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
20595384
2010