rs121908072

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	DFNA36 deafness (predicted)
(C;G)	5	DFNA36 deafness (predicted)
(G;G)	0	common in clinvar

Make rs121908072(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

72816161

Gene

TMC1

is a	snp
is	mentioned by
dbSNP	rs121908072
dbSNP (classic)	rs121908072
ClinGen	rs121908072
ebi	rs121908072
HLI	rs121908072
Exac	rs121908072
Gnomad	rs121908072
Varsome	rs121908072
LitVar	rs121908072
Map	rs121908072
PheGenI	rs121908072
Biobank	rs121908072
1000 genomes	rs121908072
hgdp	rs121908072
ensembl	rs121908072
geneview	rs121908072
scholar	rs121908072
google	rs121908072
pharmgkb	rs121908072
gwascentral	rs121908072
openSNP	rs121908072
23andMe	rs121908072
SNPshot	rs121908072
SNPdbe	rs121908072
MSV3d	rs121908072
GWAS Ctlg	rs121908072

Max Magnitude

5

OMIM	606706
Desc
Variant	0001
Related	also

OMIM	606706
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908072(A;A) rs121908072(C;C)
Alt	rs121908072(A;A) rs121908072(C;C)
Reference	Rs121908072(G;G)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	TMC1
CLNDBN	Deafness, autosomal dominant 36 Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000009.11:g.75431077G>A; NC_000009.11:g.75431077G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004318.2, RCV000217542.1, RCV000004321.2,