rs121908074

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a DFNB7/11 deafness mutation

Make rs121908074(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

72821038

Gene

TMC1

is a	snp
is	mentioned by
dbSNP	rs121908074
dbSNP (classic)	rs121908074
ClinGen	rs121908074
ebi	rs121908074
HLI	rs121908074
Exac	rs121908074
Gnomad	rs121908074
Varsome	rs121908074
LitVar	rs121908074
Map	rs121908074
PheGenI	rs121908074
Biobank	rs121908074
1000 genomes	rs121908074
hgdp	rs121908074
ensembl	rs121908074
geneview	rs121908074
scholar	rs121908074
google	rs121908074
pharmgkb	rs121908074
gwascentral	rs121908074
openSNP	rs121908074
23andMe	rs121908074
SNPshot	rs121908074
SNPdbe	rs121908074
MSV3d	rs121908074
GWAS Ctlg	rs121908074

Max Magnitude

3

aka c.1960A>G (p.Met654Val or M654V)

23andMe name: i5003571

OMIM	606706
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908074(G;G)
Alt	rs121908074(G;G)
Reference	Rs121908074(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	TMC1
CLNDBN	Deafness, autosomal recessive 7
Reversed	0
HGVS	NC_000009.11:g.75435954A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004320.3,