rs111033318

Orientation

plus

Stabilized

plus

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

Make rs111033318(A;A)

Make rs111033318(A;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107702050

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs111033318
dbSNP (classic)	rs111033318
ClinGen	rs111033318
ebi	rs111033318
HLI	rs111033318
Exac	rs111033318
Gnomad	rs111033318
Varsome	rs111033318
LitVar	rs111033318
Map	rs111033318
PheGenI	rs111033318
Biobank	rs111033318
1000 genomes	rs111033318
hgdp	rs111033318
ensembl	rs111033318
geneview	rs111033318
scholar	rs111033318
google	rs111033318
pharmgkb	rs111033318
gwascentral	rs111033318
openSNP	rs111033318
23andMe	rs111033318
SNPshot	rs111033318
SNPdbe	rs111033318
MSV3d	rs111033318
GWAS Ctlg	rs111033318

Max Magnitude

0

ClinVar
Risk	rs111033318(A;A)
Alt	rs111033318(A;A)
Reference	Rs111033318(T;T)
Significance	Pathogenic
Disease	Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation	info
Gene	SLC26A4
CLNDBN	Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed	0
HGVS	NC_000007.13:g.107342495T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036468.2, RCV000169448.1,

[PMID 12676893] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.