rs111033302

plus

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

Make rs111033302(C;C)

Make rs111033302(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107661643

Gene	SLC26A4, SLC26A4-AS1

is a	snp
is	mentioned by
dbSNP	rs111033302
dbSNP (classic)	rs111033302
ClinGen	rs111033302
ebi	rs111033302
HLI	rs111033302
Exac	rs111033302
Gnomad	rs111033302
Varsome	rs111033302
LitVar	rs111033302
Map	rs111033302
PheGenI	rs111033302
Biobank	rs111033302
1000 genomes	rs111033302
hgdp	rs111033302
ensembl	rs111033302
geneview	rs111033302
scholar	rs111033302
google	rs111033302
pharmgkb	rs111033302
gwascentral	rs111033302
openSNP	rs111033302
23andMe	rs111033302
SNPshot	rs111033302
SNPdbe	rs111033302
MSV3d	rs111033302
GWAS Ctlg	rs111033302

Max Magnitude

0

ClinVar
Risk	rs111033302(C;C) rs111033302(G;G)
Alt	rs111033302(C;C) rs111033302(G;G)
Reference	Rs111033302(T;T)
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.107302088T>C
CLNSRC	ClinVar
CLNACC	RCV000036489.2,

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

[PMID 15099345] Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.

[PMID 16950989] Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

[PMID 19204907 ] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

[PMID 19509082] Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.