rs28942097

Orientation

plus

Stabilized

plus

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

Make rs28942097(C;T)

Make rs28942097(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46709164

Gene

TMIE

is a	snp
is	mentioned by
dbSNP	rs28942097
dbSNP (classic)	rs28942097
ClinGen	rs28942097
ebi	rs28942097
HLI	rs28942097
Exac	rs28942097
Gnomad	rs28942097
Varsome	rs28942097
LitVar	rs28942097
Map	rs28942097
PheGenI	rs28942097
Biobank	rs28942097
1000 genomes	rs28942097
hgdp	rs28942097
ensembl	rs28942097
geneview	rs28942097
scholar	rs28942097
google	rs28942097
pharmgkb	rs28942097
gwascentral	rs28942097
openSNP	rs28942097
23andMe	rs28942097
SNPshot	rs28942097
SNPdbe	rs28942097
MSV3d	rs28942097
GWAS Ctlg	rs28942097

Max Magnitude

0

deafness

OMIM	607237
Desc	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6
Variant	0003
Related	also

ClinVar
Risk	rs28942097(T;T)
Alt	rs28942097(T;T)
Reference	Rs28942097(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	TMIE
CLNDBN	Deafness, autosomal recessive 6
Reversed	0
HGVS	NC_000003.11:g.46750654C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003558.5,