rs121908134

Orientation

plus

Stabilized

plus

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

Make rs121908134(A;C)

Make rs121908134(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

6451926

Gene

ESPN

is a	snp
is	mentioned by
dbSNP	rs121908134
dbSNP (classic)	rs121908134
ClinGen	rs121908134
ebi	rs121908134
HLI	rs121908134
Exac	rs121908134
Gnomad	rs121908134
Varsome	rs121908134
LitVar	rs121908134
Map	rs121908134
PheGenI	rs121908134
Biobank	rs121908134
1000 genomes	rs121908134
hgdp	rs121908134
ensembl	rs121908134
geneview	rs121908134
scholar	rs121908134
google	rs121908134
pharmgkb	rs121908134
gwascentral	rs121908134
openSNP	rs121908134
23andMe	rs121908134
SNPshot	rs121908134
SNPdbe	rs121908134
MSV3d	rs121908134
GWAS Ctlg	rs121908134

Max Magnitude

0

OMIM	606351
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908134(C;C)
Alt	rs121908134(C;C)
Reference	Rs121908134(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ESPN
CLNDBN	Deafness, without vestibular involvement, autosomal dominant
Reversed	0
HGVS	NC_000001.10:g.6511986A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004670.2,