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

rs80338849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338849(A;A)
Make rs80338849(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107683538
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs80338849
ebirs80338849
HLIrs80338849
Exacrs80338849
Varsomers80338849
Maprs80338849
PheGenIrs80338849
hapmaprs80338849
1000 genomesrs80338849
hgdprs80338849
ensemblrs80338849
gopubmedrs80338849
geneviewrs80338849
scholarrs80338849
googlers80338849
pharmgkbrs80338849
gwascentralrs80338849
openSNPrs80338849
23andMers80338849
23andMe allrs80338849
SNP Nexus

SNPshotrs80338849
SNPdbers80338849
MSV3drs80338849
GWAS Ctlgrs80338849
Max Magnitude0
OMIM605646
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338849(A,T;A,T)
Alt rs80338849(A,T;A,T)
Reference rs80338849(G;G)
Significance Pathogenic
Disease Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided
Reversed 0
HGVS NC_000007.13:g.107323983G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005088.3, RCV000036418.2, RCV000239276.1,


[PMID 9618166] Two frequent missense mutations in Pendred syndrome.


[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.


[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.


[PMID 113173] The sella turcica (some lesser known dynamic features).


[PMID 10718825] A novel mutation in the pendrin gene associated with Pendred's syndrome.


[PMID 14508505] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.


[PMID 15279074] Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.


[PMID 15689455OA-icon.png] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.