rs28942096

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28942096(C;T)

Make rs28942096(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46709155

Gene

TMIE

is a	snp
is	mentioned by
dbSNP	rs28942096
dbSNP (classic)	rs28942096
ClinGen	rs28942096
ebi	rs28942096
HLI	rs28942096
Exac	rs28942096
Gnomad	rs28942096
Varsome	rs28942096
LitVar	rs28942096
Map	rs28942096
PheGenI	rs28942096
Biobank	rs28942096
1000 genomes	rs28942096
hgdp	rs28942096
ensembl	rs28942096
geneview	rs28942096
scholar	rs28942096
google	rs28942096
pharmgkb	rs28942096
gwascentral	rs28942096
openSNP	rs28942096
23andMe	rs28942096
SNPshot	rs28942096
SNPdbe	rs28942096
MSV3d	rs28942096
GWAS Ctlg	rs28942096

Max Magnitude

0

deafness

OMIM	607237
Desc	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6
Variant	0002
Related	also

ClinVar
Risk	rs28942096(T;T)
Alt	rs28942096(T;T)
Reference	Rs28942096(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	TMIE
CLNDBN	Deafness, autosomal recessive 6
Reversed	0
HGVS	NC_000003.11:g.46750645C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003557.4,