rs111033579

Orientation

plus

Stabilized

plus

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

Make rs111033579(C;T)

Make rs111033579(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989316

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs111033579
dbSNP (classic)	rs111033579
ClinGen	rs111033579
ebi	rs111033579
HLI	rs111033579
Exac	rs111033579
Gnomad	rs111033579
Varsome	rs111033579
LitVar	rs111033579
Map	rs111033579
PheGenI	rs111033579
Biobank	rs111033579
1000 genomes	rs111033579
hgdp	rs111033579
ensembl	rs111033579
geneview	rs111033579
scholar	rs111033579
google	rs111033579
pharmgkb	rs111033579
gwascentral	rs111033579
openSNP	rs111033579
23andMe	rs111033579
SNPshot	rs111033579
SNPdbe	rs111033579
MSV3d	rs111033579
GWAS Ctlg	rs111033579

Max Magnitude

0

OMIM	606075
Desc
Variant	0009
Related	also

ClinVar
Risk	rs111033579(A;A) rs111033579(T;T)
Alt	rs111033579(A;A) rs111033579(T;T)
Reference	Rs111033579(C;C)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Variation	info
Gene	MRPL43 C10orf2
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Reversed	0
HGVS	NC_000010.10:g.102749073C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004887.5,