rs80356559

Orientation

minus

Stabilized

minus

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

Make rs80356559(C;T)

Make rs80356559(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101348553

Gene

TIMM8A

is a	snp
is	mentioned by
dbSNP	rs80356559
dbSNP (classic)	rs80356559
ClinGen	rs80356559
ebi	rs80356559
HLI	rs80356559
Exac	rs80356559
Gnomad	rs80356559
Varsome	rs80356559
LitVar	rs80356559
Map	rs80356559
PheGenI	rs80356559
Biobank	rs80356559
1000 genomes	rs80356559
hgdp	rs80356559
ensembl	rs80356559
geneview	rs80356559
scholar	rs80356559
google	rs80356559
pharmgkb	rs80356559
gwascentral	rs80356559
openSNP	rs80356559
23andMe	rs80356559
SNPshot	rs80356559
SNPdbe	rs80356559
MSV3d	rs80356559
GWAS Ctlg	rs80356559

Max Magnitude

0

ClinVar
Risk	rs80356559(T;T)
Alt	rs80356559(T;T)
Reference	Rs80356559(C;C)
Significance	Pathogenic
Disease	Mohr-Tranebjaerg syndrome
Variation	info
Gene	TIMM8A
CLNDBN	Mohr-Tranebjaerg syndrome
Reversed	1
HGVS	NC_000023.10:g.100603541G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020579.1,

[PMID 17999202] Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.