rs121908073

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a nonsyndromic deafness mutation

Make rs121908073(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

72694578

Gene

TMC1

is a	snp
is	mentioned by
dbSNP	rs121908073
dbSNP (classic)	rs121908073
ClinGen	rs121908073
ebi	rs121908073
HLI	rs121908073
Exac	rs121908073
Gnomad	rs121908073
Varsome	rs121908073
LitVar	rs121908073
Map	rs121908073
PheGenI	rs121908073
Biobank	rs121908073
1000 genomes	rs121908073
hgdp	rs121908073
ensembl	rs121908073
geneview	rs121908073
scholar	rs121908073
google	rs121908073
pharmgkb	rs121908073
gwascentral	rs121908073
openSNP	rs121908073
23andMe	rs121908073
SNPshot	rs121908073
SNPdbe	rs121908073
MSV3d	rs121908073
GWAS Ctlg	rs121908073

GMAF

0.0004591

Max Magnitude

3

aka c.100C>T (p.Arg34Ter or R34X)

23andMe name: i5003572

OMIM	606706
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908073(T;T)
Alt	rs121908073(T;T)
Reference	Rs121908073(C;C)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	TMC1
CLNDBN	Deafness, autosomal recessive 7 Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000009.11:g.75309494C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004319.5, RCV000211859.1,