rs80356542

Orientation

plus

Stabilized

plus

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

Make rs80356542(A;A)

Make rs80356542(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989162

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs80356542
dbSNP (classic)	rs80356542
ClinGen	rs80356542
ebi	rs80356542
HLI	rs80356542
Exac	rs80356542
Gnomad	rs80356542
Varsome	rs80356542
LitVar	rs80356542
Map	rs80356542
PheGenI	rs80356542
Biobank	rs80356542
1000 genomes	rs80356542
hgdp	rs80356542
ensembl	rs80356542
geneview	rs80356542
scholar	rs80356542
google	rs80356542
pharmgkb	rs80356542
gwascentral	rs80356542
openSNP	rs80356542
23andMe	rs80356542
SNPshot	rs80356542
SNPdbe	rs80356542
MSV3d	rs80356542
GWAS Ctlg	rs80356542

Max Magnitude

0

ClinVar
Risk	rs80356542(A;A)
Alt	rs80356542(A;A)
Reference	Rs80356542(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Variation	info
Gene	MRPL43 C10orf2
CLNDBN	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Reversed	0
HGVS	NC_000010.10:g.102748919G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020866.5,

[PMID 17921179] Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.