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rs431905509

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs431905509(C;G)
Make rs431905509(G;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position19176222
GeneSLC25A1
is asnp
is mentioned by
dbSNPrs431905509
dbSNP (classic)rs431905509
ClinGenrs431905509
ebirs431905509
HLIrs431905509
Exacrs431905509
Gnomadrs431905509
Varsomers431905509
LitVarrs431905509
Maprs431905509
PheGenIrs431905509
Biobankrs431905509
1000 genomesrs431905509
hgdprs431905509
ensemblrs431905509
geneviewrs431905509
scholarrs431905509
googlers431905509
pharmgkbrs431905509
gwascentralrs431905509
openSNPrs431905509
23andMers431905509
SNPshotrs431905509
SNPdbers431905509
MSV3drs431905509
GWAS Ctlgrs431905509
Max Magnitude0
ClinVar
Risk rs431905509(G;G) rs431905509(T;T)
Alt rs431905509(G;G) rs431905509(T;T)
Reference Rs431905509(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.19163735G>A; NC_000022.10:g.19163735G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000035018.25, RCV000035017.25,