rs111033205

plus

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

Make rs111033205(C;C)

Make rs111033205(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107661726

Gene	SLC26A4, SLC26A4-AS1

is a	snp
is	mentioned by
dbSNP	rs111033205
dbSNP (classic)	rs111033205
ClinGen	rs111033205
ebi	rs111033205
HLI	rs111033205
Exac	rs111033205
Gnomad	rs111033205
Varsome	rs111033205
LitVar	rs111033205
Map	rs111033205
PheGenI	rs111033205
Biobank	rs111033205
1000 genomes	rs111033205
hgdp	rs111033205
ensembl	rs111033205
geneview	rs111033205
scholar	rs111033205
google	rs111033205
pharmgkb	rs111033205
gwascentral	rs111033205
openSNP	rs111033205
23andMe	rs111033205
SNPshot	rs111033205
SNPdbe	rs111033205
MSV3d	rs111033205
GWAS Ctlg	rs111033205

Max Magnitude

0

OMIM	605646
Desc
Variant	0028
Related	also

ClinVar
Risk	rs111033205(C;C) rs111033205(T;T)
Alt	rs111033205(C;C) rs111033205(T;T)
Reference	Rs111033205(G;G)
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.107302171G>C; NC_000007.13:g.107302171G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005111.4, RCV000036509.3, RCV000169251.1, RCV000036510.2,

[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 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.