rs111033312

Orientation

plus

Stabilized

plus

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

Make rs111033312(A;A)

Make rs111033312(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107698112

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs111033312
dbSNP (classic)	rs111033312
ClinGen	rs111033312
ebi	rs111033312
HLI	rs111033312
Exac	rs111033312
Gnomad	rs111033312
Varsome	rs111033312
LitVar	rs111033312
Map	rs111033312
PheGenI	rs111033312
Biobank	rs111033312
1000 genomes	rs111033312
hgdp	rs111033312
ensembl	rs111033312
geneview	rs111033312
scholar	rs111033312
google	rs111033312
pharmgkb	rs111033312
gwascentral	rs111033312
openSNP	rs111033312
23andMe	rs111033312
SNPshot	rs111033312
SNPdbe	rs111033312
MSV3d	rs111033312
GWAS Ctlg	rs111033312

Max Magnitude

0

ClinVar
Risk	rs111033312(A;A) rs111033312(C;C)
Alt	rs111033312(A;A) rs111033312(C;C)
Reference	Rs111033312(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.107338557G>A; NC_000007.13:g.107338557G>C
CLNSRC	ClinVar
CLNACC	RCV000036451.3, RCV000359760.1, RCV000155956.2,

[PMID 11919333] Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.