rs104893876

Orientation

plus

Stabilized

plus

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

Make rs104893876(C;C)

Make rs104893876(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185144945

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs104893876
dbSNP (classic)	rs104893876
ClinGen	rs104893876
ebi	rs104893876
HLI	rs104893876
Exac	rs104893876
Gnomad	rs104893876
Varsome	rs104893876
LitVar	rs104893876
Map	rs104893876
PheGenI	rs104893876
Biobank	rs104893876
1000 genomes	rs104893876
hgdp	rs104893876
ensembl	rs104893876
geneview	rs104893876
scholar	rs104893876
google	rs104893876
pharmgkb	rs104893876
gwascentral	rs104893876
openSNP	rs104893876
23andMe	rs104893876
SNPshot	rs104893876
SNPdbe	rs104893876
MSV3d	rs104893876
GWAS Ctlg	rs104893876

Max Magnitude

0

OMIM	103220
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893876(C;C)
Alt	rs104893876(C;C)
Reference	Rs104893876(T;T)
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.186066099T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019909.27,