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rs111033256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033256(A;A)
Make rs111033256(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107675060
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033256
ebirs111033256
HLIrs111033256
Exacrs111033256
Varsomers111033256
Maprs111033256
PheGenIrs111033256
hapmaprs111033256
1000 genomesrs111033256
hgdprs111033256
ensemblrs111033256
gopubmedrs111033256
geneviewrs111033256
scholarrs111033256
googlers111033256
pharmgkbrs111033256
gwascentralrs111033256
openSNPrs111033256
23andMers111033256
23andMe allrs111033256
SNP Nexus

SNPshotrs111033256
SNPdbers111033256
MSV3drs111033256
GWAS Ctlgrs111033256
Max Magnitude0
ClinVar
Risk rs111033256(A;A)
Alt rs111033256(A;A)
Reference rs111033256(T;T)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107315505T>A
CLNSRC ClinVar
CLNACC RCV000036506.2, RCV000169244.1,


[PMID 12676893OA-icon.png] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.


[PMID 12974744] Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.


[PMID 16460646OA-icon.png] Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.