rs121908930

Orientation

plus

Stabilized

plus

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

Make rs121908930(A;A)

Make rs121908930(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

30878897

Gene	COCH, LOC100506071

is a	snp
is	mentioned by
dbSNP	rs121908930
dbSNP (classic)	rs121908930
ClinGen	rs121908930
ebi	rs121908930
HLI	rs121908930
Exac	rs121908930
Gnomad	rs121908930
Varsome	rs121908930
LitVar	rs121908930
Map	rs121908930
PheGenI	rs121908930
Biobank	rs121908930
1000 genomes	rs121908930
hgdp	rs121908930
ensembl	rs121908930
geneview	rs121908930
scholar	rs121908930
google	rs121908930
pharmgkb	rs121908930
gwascentral	rs121908930
openSNP	rs121908930
23andMe	rs121908930
SNPshot	rs121908930
SNPdbe	rs121908930
MSV3d	rs121908930
GWAS Ctlg	rs121908930

Max Magnitude

0

OMIM	603196
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908930(A;A)
Alt	rs121908930(A;A)
Reference	Rs121908930(T;T)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	COCH LOC100506071
CLNDBN	Deafness, autosomal dominant 9
Reversed	0
HGVS	NC_000014.8:g.31348103T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006991.3,