rs111033303

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs111033303(G;T)

Make rs111033303(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107674970

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs111033303
dbSNP (classic)	rs111033303
ClinGen	rs111033303
ebi	rs111033303
HLI	rs111033303
Exac	rs111033303
Gnomad	rs111033303
Varsome	rs111033303
LitVar	rs111033303
Map	rs111033303
PheGenI	rs111033303
Biobank	rs111033303
1000 genomes	rs111033303
hgdp	rs111033303
ensembl	rs111033303
geneview	rs111033303
scholar	rs111033303
google	rs111033303
pharmgkb	rs111033303
gwascentral	rs111033303
openSNP	rs111033303
23andMe	rs111033303
SNPshot	rs111033303
SNPdbe	rs111033303
MSV3d	rs111033303
GWAS Ctlg	rs111033303

Max Magnitude

0

OMIM	605646
Desc
Variant	0009
Related	also

ClinVar
Risk	rs111033303(T;T)
Alt	rs111033303(T;T)
Reference	Rs111033303(G;G)
Significance	Pathogenic
Disease	Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Variation	info
Gene	SLC26A4
CLNDBN	Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Reversed	0
HGVS	NC_000007.13:g.107315415G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005090.4, RCV000036501.2, RCV000308471.1, RCV000344627.1,

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

[PMID 10190331] Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

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

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

[PMID 15689455 ] 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.