rs80356541

Orientation

plus

Stabilized

plus

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

Make rs80356541(C;T)

Make rs80356541(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989687

Gene	C10orf2, TWNK

is a	snp
is	mentioned by
dbSNP	rs80356541
dbSNP (classic)	rs80356541
ClinGen	rs80356541
ebi	rs80356541
HLI	rs80356541
Exac	rs80356541
Gnomad	rs80356541
Varsome	rs80356541
LitVar	rs80356541
Map	rs80356541
PheGenI	rs80356541
Biobank	rs80356541
1000 genomes	rs80356541
hgdp	rs80356541
ensembl	rs80356541
geneview	rs80356541
scholar	rs80356541
google	rs80356541
pharmgkb	rs80356541
gwascentral	rs80356541
openSNP	rs80356541
23andMe	rs80356541
SNPshot	rs80356541
SNPdbe	rs80356541
MSV3d	rs80356541
GWAS Ctlg	rs80356541

Max Magnitude

0

ClinVar
Risk	rs80356541(T;T)
Alt	rs80356541(T;T)
Reference	Rs80356541(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Variation	info
Gene	C10orf2
CLNDBN	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Reversed	0
HGVS	NC_000010.10:g.102749444C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020863.1,

[PMID 16135556] Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.