rs138527651

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of a DFNB7/11 deafness mutation

Make rs138527651(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

72821017

Gene

TMC1

is a	snp
is	mentioned by
dbSNP	rs138527651
dbSNP (classic)	rs138527651
ClinGen	rs138527651
ebi	rs138527651
HLI	rs138527651
Exac	rs138527651
Gnomad	rs138527651
Varsome	rs138527651
LitVar	rs138527651
Map	rs138527651
PheGenI	rs138527651
Biobank	rs138527651
1000 genomes	rs138527651
hgdp	rs138527651
ensembl	rs138527651
geneview	rs138527651
scholar	rs138527651
google	rs138527651
pharmgkb	rs138527651
gwascentral	rs138527651
openSNP	rs138527651
23andMe	rs138527651
SNPshot	rs138527651
SNPdbe	rs138527651
MSV3d	rs138527651
GWAS Ctlg	rs138527651

Max Magnitude

3

ClinVar
Risk	rs138527651(C;C)
Alt	rs138527651(C;C)
Reference	Rs138527651(T;T)
Significance	Pathogenic
Disease	Nonsyndromic hearing loss and deafness Deafness
Variation	info
Gene	TMC1
CLNDBN	Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 7
Reversed	0
HGVS	NC_000009.11:g.75435933T>C
CLNSRC
CLNACC	RCV000221167.1, RCV000225028.1, RCV000225055.1, RCV000225096.1, RCV000225097.1,