rs111033308

plus

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

Make rs111033308(A;A)

Make rs111033308(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107695984

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs111033308
dbSNP (classic)	rs111033308
ClinGen	rs111033308
ebi	rs111033308
HLI	rs111033308
Exac	rs111033308
Gnomad	rs111033308
Varsome	rs111033308
LitVar	rs111033308
Map	rs111033308
PheGenI	rs111033308
Biobank	rs111033308
1000 genomes	rs111033308
hgdp	rs111033308
ensembl	rs111033308
geneview	rs111033308
scholar	rs111033308
google	rs111033308
pharmgkb	rs111033308
gwascentral	rs111033308
openSNP	rs111033308
23andMe	rs111033308
SNPshot	rs111033308
SNPdbe	rs111033308
MSV3d	rs111033308
GWAS Ctlg	rs111033308

Max Magnitude

0

ClinVar
Risk	rs111033308(A;A)
Alt	rs111033308(A;A)
Reference	Rs111033308(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.107336429G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005085.4, RCV000036444.2, RCV000169242.1, RCV000489866.1,

[PMID 9500541] A mutation in PDS causes non-syndromic recessive deafness.

[PMID 10861298] Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

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

[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

[PMID 18310264] Heterogeneity in the processing defect of SLC26A4 mutants.