rs28941781

Orientation

plus

Stabilized

plus

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

Make rs28941781(C;T)

Make rs28941781(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46709188

Gene

TMIE

is a	snp
is	mentioned by
dbSNP	rs28941781
dbSNP (classic)	rs28941781
ClinGen	rs28941781
ebi	rs28941781
HLI	rs28941781
Exac	rs28941781
Gnomad	rs28941781
Varsome	rs28941781
LitVar	rs28941781
Map	rs28941781
PheGenI	rs28941781
Biobank	rs28941781
1000 genomes	rs28941781
hgdp	rs28941781
ensembl	rs28941781
geneview	rs28941781
scholar	rs28941781
google	rs28941781
pharmgkb	rs28941781
gwascentral	rs28941781
openSNP	rs28941781
23andMe	rs28941781
SNPshot	rs28941781
SNPdbe	rs28941781
MSV3d	rs28941781
GWAS Ctlg	rs28941781

Max Magnitude

0

deafness

OMIM	607237
Desc	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6
Variant	0004
Related	also

ClinVar
Risk	rs28941781(T;T)
Alt	rs28941781(T;T)
Reference	Rs28941781(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	TMIE
CLNDBN	Deafness, autosomal recessive 6
Reversed	0
HGVS	NC_000003.11:g.46750678C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003559.4,