rs111033577

Orientation

plus

Stabilized

plus

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

Make rs111033577(G;G)

Make rs111033577(G;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989352

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs111033577
dbSNP (classic)	rs111033577
ClinGen	rs111033577
ebi	rs111033577
HLI	rs111033577
Exac	rs111033577
Gnomad	rs111033577
Varsome	rs111033577
LitVar	rs111033577
Map	rs111033577
PheGenI	rs111033577
Biobank	rs111033577
1000 genomes	rs111033577
hgdp	rs111033577
ensembl	rs111033577
geneview	rs111033577
scholar	rs111033577
google	rs111033577
pharmgkb	rs111033577
gwascentral	rs111033577
openSNP	rs111033577
23andMe	rs111033577
SNPshot	rs111033577
SNPdbe	rs111033577
MSV3d	rs111033577
GWAS Ctlg	rs111033577

Max Magnitude

0

OMIM	606075
Desc
Variant	0007
Related	also

ClinVar
Risk	rs111033577(C;C) rs111033577(G;G)
Alt	rs111033577(C;C) rs111033577(G;G)
Reference	Rs111033577(T;T)
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.102749109T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004885.6,