rs28999114

Orientation

plus

Stabilized

plus

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

Make rs28999114(A;G)

Make rs28999114(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185144963

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs28999114
dbSNP (classic)	rs28999114
ClinGen	rs28999114
ebi	rs28999114
HLI	rs28999114
Exac	rs28999114
Gnomad	rs28999114
Varsome	rs28999114
LitVar	rs28999114
Map	rs28999114
PheGenI	rs28999114
Biobank	rs28999114
1000 genomes	rs28999114
hgdp	rs28999114
ensembl	rs28999114
geneview	rs28999114
scholar	rs28999114
google	rs28999114
pharmgkb	rs28999114
gwascentral	rs28999114
openSNP	rs28999114
23andMe	rs28999114
SNPshot	rs28999114
SNPdbe	rs28999114
MSV3d	rs28999114
GWAS Ctlg	rs28999114

Max Magnitude

0

OMIM	103220
Desc	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
Variant	0004
Related	also

ClinVar
Risk	rs28999114(G;G)
Alt	rs28999114(G;G)
Reference	Rs28999114(A;A)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Variation	info
Gene	SLC25A4
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Reversed	0
HGVS	NC_000004.11:g.186066117A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019910.29,