rs386834145

Orientation

plus

Stabilized

plus

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

Make rs386834145(C;G)

Make rs386834145(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989766

Gene	C10orf2, TWNK

is a	snp
is	mentioned by
dbSNP	rs386834145
dbSNP (classic)	rs386834145
ClinGen	rs386834145
ebi	rs386834145
HLI	rs386834145
Exac	rs386834145
Gnomad	rs386834145
Varsome	rs386834145
LitVar	rs386834145
Map	rs386834145
PheGenI	rs386834145
Biobank	rs386834145
1000 genomes	rs386834145
hgdp	rs386834145
ensembl	rs386834145
geneview	rs386834145
scholar	rs386834145
google	rs386834145
pharmgkb	rs386834145
gwascentral	rs386834145
openSNP	rs386834145
23andMe	rs386834145
SNPshot	rs386834145
SNPdbe	rs386834145
MSV3d	rs386834145
GWAS Ctlg	rs386834145

Max Magnitude

0

ClinVar
Risk	rs386834145(G;G)
Alt	rs386834145(G;G)
Reference	Rs386834145(C;C)
Significance	Probable-Pathogenic
Disease	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Variation	info
Gene	C10orf2
CLNDBN	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Reversed	0
HGVS	NC_000010.10:g.102749523C>G
CLNSRC	ClinVar
CLNACC	RCV000050139.1, RCV000415948.1,

[PMID 22353293] Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.