rs104893873

Orientation

plus

Stabilized

plus

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

Make rs104893873(C;C)

Make rs104893873(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185144992

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs104893873
dbSNP (classic)	rs104893873
ClinGen	rs104893873
ebi	rs104893873
HLI	rs104893873
Exac	rs104893873
Gnomad	rs104893873
Varsome	rs104893873
LitVar	rs104893873
Map	rs104893873
PheGenI	rs104893873
Biobank	rs104893873
1000 genomes	rs104893873
hgdp	rs104893873
ensembl	rs104893873
geneview	rs104893873
scholar	rs104893873
google	rs104893873
pharmgkb	rs104893873
gwascentral	rs104893873
openSNP	rs104893873
23andMe	rs104893873
SNPshot	rs104893873
SNPdbe	rs104893873
MSV3d	rs104893873
GWAS Ctlg	rs104893873

Max Magnitude

0

OMIM	103220
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893873(C;C)
Alt	rs104893873(C;C)
Reference	Rs104893873(G;G)
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.186066146G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019907.28,