Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033302(C;C)
Make rs111033302(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107661643
GeneLOC286002, SLC26A4
is asnp
is mentioned by
dbSNPrs111033302
ebirs111033302
HLIrs111033302
Exacrs111033302
Varsomers111033302
Maprs111033302
PheGenIrs111033302
hapmaprs111033302
1000 genomesrs111033302
hgdprs111033302
ensemblrs111033302
gopubmedrs111033302
geneviewrs111033302
scholarrs111033302
googlers111033302
pharmgkbrs111033302
gwascentralrs111033302
openSNPrs111033302
23andMers111033302
23andMe allrs111033302
SNP Nexus

SNPshotrs111033302
SNPdbers111033302
MSV3drs111033302
GWAS Ctlgrs111033302
Max Magnitude0
ClinVar
Risk rs111033302(C,G;C,G)
Alt rs111033302(C,G;C,G)
Reference rs111033302(T;T)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107302088T>C
CLNSRC ClinVar
CLNACC RCV000036489.2,


[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.


[PMID 15099345] Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.


[PMID 16950989] Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.


[PMID 19204907OA-icon.png] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?


[PMID 19509082] Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.