rs80356544

Orientation

plus

Stabilized

plus

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

Make rs80356544(C;T)

Make rs80356544(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989770

Gene	C10orf2, TWNK

is a	snp
is	mentioned by
dbSNP	rs80356544
dbSNP (classic)	rs80356544
ClinGen	rs80356544
ebi	rs80356544
HLI	rs80356544
Exac	rs80356544
Gnomad	rs80356544
Varsome	rs80356544
LitVar	rs80356544
Map	rs80356544
PheGenI	rs80356544
Biobank	rs80356544
1000 genomes	rs80356544
hgdp	rs80356544
ensembl	rs80356544
geneview	rs80356544
scholar	rs80356544
google	rs80356544
pharmgkb	rs80356544
gwascentral	rs80356544
openSNP	rs80356544
23andMe	rs80356544
SNPshot	rs80356544
SNPdbe	rs80356544
MSV3d	rs80356544
GWAS Ctlg	rs80356544

Max Magnitude

0

OMIM	606075
Desc
Variant	0011
Related	also

ClinVar
Risk	rs80356544(T;T)
Alt	rs80356544(T;T)
Reference	Rs80356544(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Mitochondrial DNA-depletion syndrome 3
Variation	info
Gene	C10orf2
CLNDBN	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed	0
HGVS	NC_000010.10:g.102749527C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004889.4, RCV000020864.1,

[PMID 17722119] Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.