rs727503483

Orientation

plus

Stabilized

plus

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

Make rs727503483(A;A)

Make rs727503483(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

72792318

Gene

TMC1

is a	snp
is	mentioned by
dbSNP	rs727503483
dbSNP (classic)	rs727503483
ClinGen	rs727503483
ebi	rs727503483
HLI	rs727503483
Exac	rs727503483
Gnomad	rs727503483
Varsome	rs727503483
LitVar	rs727503483
Map	rs727503483
PheGenI	rs727503483
Biobank	rs727503483
1000 genomes	rs727503483
hgdp	rs727503483
ensembl	rs727503483
geneview	rs727503483
scholar	rs727503483
google	rs727503483
pharmgkb	rs727503483
gwascentral	rs727503483
openSNP	rs727503483
23andMe	rs727503483
SNPshot	rs727503483
SNPdbe	rs727503483
MSV3d	rs727503483
GWAS Ctlg	rs727503483

Max Magnitude

3

ClinVar
Risk	rs727503483(A;A) rs727503483(T;T)
Alt	rs727503483(A;A) rs727503483(T;T)
Reference	Rs727503483(C;C)
Significance	Pathogenic
Disease	not specified Deafness
Variation	info
Gene	TMC1
CLNDBN	not specified Deafness, autosomal recessive 7
Reversed	0
HGVS	NC_000009.11:g.75407234C>A; NC_000009.11:g.75407234C>T
CLNSRC
CLNACC	RCV000152038.1, RCV000454230.1,