rs121908135

Orientation

plus

Stabilized

plus

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

Make rs121908135(A;A)

Make rs121908135(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

6452001

Gene

ESPN

is a	snp
is	mentioned by
dbSNP	rs121908135
dbSNP (classic)	rs121908135
ClinGen	rs121908135
ebi	rs121908135
HLI	rs121908135
Exac	rs121908135
Gnomad	rs121908135
Varsome	rs121908135
LitVar	rs121908135
Map	rs121908135
PheGenI	rs121908135
Biobank	rs121908135
1000 genomes	rs121908135
hgdp	rs121908135
ensembl	rs121908135
geneview	rs121908135
scholar	rs121908135
google	rs121908135
pharmgkb	rs121908135
gwascentral	rs121908135
openSNP	rs121908135
23andMe	rs121908135
SNPshot	rs121908135
SNPdbe	rs121908135
MSV3d	rs121908135
GWAS Ctlg	rs121908135

Max Magnitude

0

OMIM	606351
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908135(A;A) rs121908135(T;T)
Alt	rs121908135(A;A) rs121908135(T;T)
Reference	Rs121908135(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ESPN
CLNDBN	Deafness, without vestibular involvement, autosomal dominant
Reversed	0
HGVS	NC_000001.10:g.6512061G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004671.2,