rs145254330

Orientation

plus

Stabilized

plus

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

Make rs145254330(C;T)

Make rs145254330(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

107672182

Gene

SLC26A4

is a	snp
is	mentioned by
dbSNP	rs145254330
dbSNP (classic)	rs145254330
ClinGen	rs145254330
ebi	rs145254330
HLI	rs145254330
Exac	rs145254330
Gnomad	rs145254330
Varsome	rs145254330
LitVar	rs145254330
Map	rs145254330
PheGenI	rs145254330
Biobank	rs145254330
1000 genomes	rs145254330
hgdp	rs145254330
ensembl	rs145254330
geneview	rs145254330
scholar	rs145254330
google	rs145254330
pharmgkb	rs145254330
gwascentral	rs145254330
openSNP	rs145254330
23andMe	rs145254330
SNPshot	rs145254330
SNPdbe	rs145254330
MSV3d	rs145254330
GWAS Ctlg	rs145254330

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs145254330(T;T)
Alt	rs145254330(T;T)
Reference	Rs145254330(C;C)
Significance	Pathogenic
Disease	not specified Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation	info
Gene	SLC26A4
CLNDBN	not specified Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed	0
HGVS	NC_000007.13:g.107312627C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036491.2, RCV000225014.1, RCV000225040.1, RCV000225082.1,