rs28934589

Orientation

minus

Stabilized

minus

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

Make rs28934589(A;G)

Make rs28934589(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48859097

Gene

SLC25A20

is a	snp
is	mentioned by
dbSNP	rs28934589
dbSNP (classic)	rs28934589
ClinGen	rs28934589
ebi	rs28934589
HLI	rs28934589
Exac	rs28934589
Gnomad	rs28934589
Varsome	rs28934589
LitVar	rs28934589
Map	rs28934589
PheGenI	rs28934589
Biobank	rs28934589
1000 genomes	rs28934589
hgdp	rs28934589
ensembl	rs28934589
geneview	rs28934589
scholar	rs28934589
google	rs28934589
pharmgkb	rs28934589
gwascentral	rs28934589
openSNP	rs28934589
23andMe	rs28934589
SNPshot	rs28934589
SNPdbe	rs28934589
MSV3d	rs28934589
GWAS Ctlg	rs28934589

Max Magnitude

0

OMIM	212138
Desc	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Variant	0007
Related	also

ClinVar
Risk	rs28934589(G;G)
Alt	rs28934589(G;G)
Reference	Rs28934589(A;A)
Significance	Pathogenic
Disease	Carnitine acylcarnitine translocase deficiency not provided
Variation	info
Gene	SLC25A20
CLNDBN	Carnitine acylcarnitine translocase deficiency not provided
Reversed	1
HGVS	NC_000003.11:g.48896530T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012921.3, RCV000153966.3,