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rs368647424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368647424(C;T)
Make rs368647424(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position19177779
GeneSLC25A1
is asnp
is mentioned by
dbSNPrs368647424
ebirs368647424
HLIrs368647424
Exacrs368647424
Varsomers368647424
Maprs368647424
PheGenIrs368647424
hapmaprs368647424
1000 genomesrs368647424
hgdprs368647424
ensemblrs368647424
gopubmedrs368647424
geneviewrs368647424
scholarrs368647424
googlers368647424
pharmgkbrs368647424
gwascentralrs368647424
openSNPrs368647424
23andMers368647424
23andMe allrs368647424
SNP Nexus

SNPshotrs368647424
SNPdbers368647424
MSV3drs368647424
GWAS Ctlgrs368647424
Max Magnitude0
ClinVar
Risk rs368647424(T;T)
Alt rs368647424(T;T)
Reference rs368647424(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 0
HGVS NC_000022.10:g.19165292C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000035020.24,