rs11090865

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	2.3	Carrier of a deafness-related modifier variant
(T;T)	3	Modifier variant; some impact in rare cases

Reference

GRCh38 38.1/141

Chromosome

22

Position

46335792

Gene

TRMU

is a	snp
is	mentioned by
dbSNP	rs11090865
dbSNP (classic)	rs11090865
ClinGen	rs11090865
ebi	rs11090865
HLI	rs11090865
Exac	rs11090865
Gnomad	rs11090865
Varsome	rs11090865
LitVar	rs11090865
Map	rs11090865
PheGenI	rs11090865
Biobank	rs11090865
1000 genomes	rs11090865
hgdp	rs11090865
ensembl	rs11090865
geneview	rs11090865
scholar	rs11090865
google	rs11090865
pharmgkb	rs11090865
gwascentral	rs11090865
openSNP	rs11090865
23andMe	rs11090865
SNPshot	rs11090865
SNPdbe	rs11090865
MSV3d	rs11090865
GWAS Ctlg	rs11090865

GMAF

0.1088

Max Magnitude

3

This SNP, also known as c.28G>T, p.Ala10Ser or A10S, represents a variant in the TRMU gene on chromosome 22.

Individuals who are homozygous TRMU A10S (i.e. rs11090865(T;T)) *AND* who also carry the mtDNA A1555G mutation (rs267606617(G)) exhibit prelingual profound deafness.[PMID 16826519 ]

?

(G;G) (G;T) (T;T)

28

OMIM	610230
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs11090865(T;T)
Alt	Rs11090865(T;T)
Reference	Rs11090865(G;G)
Significance	Other
Disease	Deafness not specified Liver failure acute infantile
Variation	info
Gene	TRMU
CLNDBN	Deafness, mitochondrial, modifier of not specified Liver failure acute infantile
Reversed	0
HGVS	NC_000022.10:g.46731689G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001353.3, RCV000173461.2, RCV000295210.1,