rs28938175

Orientation

plus

Stabilized

plus

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

Make rs28938175(C;T)

Make rs28938175(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

30877640

Gene	COCH, LOC100506071

is a	snp
is	mentioned by
dbSNP	rs28938175
dbSNP (classic)	rs28938175
ClinGen	rs28938175
ebi	rs28938175
HLI	rs28938175
Exac	rs28938175
Gnomad	rs28938175
Varsome	rs28938175
LitVar	rs28938175
Map	rs28938175
PheGenI	rs28938175
Biobank	rs28938175
1000 genomes	rs28938175
hgdp	rs28938175
ensembl	rs28938175
geneview	rs28938175
scholar	rs28938175
google	rs28938175
pharmgkb	rs28938175
gwascentral	rs28938175
openSNP	rs28938175
23andMe	rs28938175
SNPshot	rs28938175
SNPdbe	rs28938175
MSV3d	rs28938175
GWAS Ctlg	rs28938175

Max Magnitude

0

deafness

OMIM	603196
Desc	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9
Variant	0004
Related	also

ClinVar
Risk	rs28938175(T;T)
Alt	rs28938175(T;T)
Reference	Rs28938175(C;C)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	COCH LOC100506071
CLNDBN	Deafness, autosomal dominant 9 Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000014.8:g.31346846C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006990.6, RCV000211754.1,