rs483352910

Orientation

minus

Stabilized

minus

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

Make rs483352910(C;T)

Make rs483352910(T;T)

Reference

GRCh38 38.1/142

Chromosome

22

Position

19176421

Gene

SLC25A1

is a	snp
is	mentioned by
dbSNP	rs483352910
dbSNP (classic)	rs483352910
ClinGen	rs483352910
ebi	rs483352910
HLI	rs483352910
Exac	rs483352910
Gnomad	rs483352910
Varsome	rs483352910
LitVar	rs483352910
Map	rs483352910
PheGenI	rs483352910
Biobank	rs483352910
1000 genomes	rs483352910
hgdp	rs483352910
ensembl	rs483352910
geneview	rs483352910
scholar	rs483352910
google	rs483352910
pharmgkb	rs483352910
gwascentral	rs483352910
openSNP	rs483352910
23andMe	rs483352910
SNPshot	rs483352910
SNPdbe	rs483352910
MSV3d	rs483352910
GWAS Ctlg	rs483352910

Max Magnitude

0

ClinVar
Risk	rs483352910(T;T)
Alt	rs483352910(T;T)
Reference	Rs483352910(C;C)
Significance	Pathogenic
Disease	Combined d-2- and l-2-hydroxyglutaric aciduria
Variation	info
Gene	SLC25A1
CLNDBN	Combined d-2- and l-2-hydroxyglutaric aciduria
Reversed	1
HGVS	NC_000022.10:g.19163934G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000035021.18,