rs104893874

Orientation

plus

Stabilized

plus

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

Make rs104893874(A;A)

Make rs104893874(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

185146939

Gene

SLC25A4

is a	snp
is	mentioned by
dbSNP	rs104893874
dbSNP (classic)	rs104893874
ClinGen	rs104893874
ebi	rs104893874
HLI	rs104893874
Exac	rs104893874
Gnomad	rs104893874
Varsome	rs104893874
LitVar	rs104893874
Map	rs104893874
PheGenI	rs104893874
Biobank	rs104893874
1000 genomes	rs104893874
hgdp	rs104893874
ensembl	rs104893874
geneview	rs104893874
scholar	rs104893874
google	rs104893874
pharmgkb	rs104893874
gwascentral	rs104893874
openSNP	rs104893874
23andMe	rs104893874
SNPshot	rs104893874
SNPdbe	rs104893874
MSV3d	rs104893874
GWAS Ctlg	rs104893874

Max Magnitude

0

OMIM	103220
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893874(A;A)
Alt	rs104893874(A;A)
Reference	Rs104893874(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.186068093G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019908.28,