rs28937887

Orientation

plus

Stabilized

plus

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

Make rs28937887(A;A)

Make rs28937887(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989211

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs28937887
dbSNP (classic)	rs28937887
ClinGen	rs28937887
ebi	rs28937887
HLI	rs28937887
Exac	rs28937887
Gnomad	rs28937887
Varsome	rs28937887
LitVar	rs28937887
Map	rs28937887
PheGenI	rs28937887
Biobank	rs28937887
1000 genomes	rs28937887
hgdp	rs28937887
ensembl	rs28937887
geneview	rs28937887
scholar	rs28937887
google	rs28937887
pharmgkb	rs28937887
gwascentral	rs28937887
openSNP	rs28937887
23andMe	rs28937887
SNPshot	rs28937887
SNPdbe	rs28937887
MSV3d	rs28937887
GWAS Ctlg	rs28937887

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	606075
Desc	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
Variant	0008
Related	also

ClinVar
Risk	rs28937887(A;A) rs28937887(T;T)
Alt	rs28937887(A;A) rs28937887(T;T)
Reference	Rs28937887(G;G)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation	info
Gene	MRPL43 C10orf2
CLNDBN	Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Reversed	0
HGVS	NC_000010.10:g.102748968G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004886.5,