rs111033573

Orientation

plus

Stabilized

plus

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

Make rs111033573(G;T)

Make rs111033573(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989285

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs111033573
dbSNP (classic)	rs111033573
ClinGen	rs111033573
ebi	rs111033573
HLI	rs111033573
Exac	rs111033573
Gnomad	rs111033573
Varsome	rs111033573
LitVar	rs111033573
Map	rs111033573
PheGenI	rs111033573
Biobank	rs111033573
1000 genomes	rs111033573
hgdp	rs111033573
ensembl	rs111033573
geneview	rs111033573
scholar	rs111033573
google	rs111033573
pharmgkb	rs111033573
gwascentral	rs111033573
openSNP	rs111033573
23andMe	rs111033573
SNPshot	rs111033573
SNPdbe	rs111033573
MSV3d	rs111033573
GWAS Ctlg	rs111033573

Max Magnitude

0

OMIM	606075
Desc
Variant	0003
Related	also

ClinVar
Risk	rs111033573(A;A) rs111033573(T;T)
Alt	rs111033573(A;A) rs111033573(T;T)
Reference	Rs111033573(G;G)
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.102749042G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004881.6,