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rs483352910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352910(C;T)
Make rs483352910(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position19176421
GeneSLC25A1
is asnp
is mentioned by
dbSNPrs483352910
ebirs483352910
HLIrs483352910
Exacrs483352910
Varsomers483352910
Maprs483352910
PheGenIrs483352910
hapmaprs483352910
1000 genomesrs483352910
hgdprs483352910
ensemblrs483352910
gopubmedrs483352910
geneviewrs483352910
scholarrs483352910
googlers483352910
pharmgkbrs483352910
gwascentralrs483352910
openSNPrs483352910
23andMers483352910
23andMe allrs483352910
SNP Nexus

SNPshotrs483352910
SNPdbers483352910
MSV3drs483352910
GWAS Ctlgrs483352910
Max Magnitude0
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,