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rs431905510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905510(A;A)
Make rs431905510(A;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position19176221
GeneSLC25A1
is asnp
is mentioned by
dbSNPrs431905510
dbSNP (classic)rs431905510
ClinGenrs431905510
ebirs431905510
HLIrs431905510
Exacrs431905510
Gnomadrs431905510
Varsomers431905510
LitVarrs431905510
Maprs431905510
PheGenIrs431905510
Biobankrs431905510
1000 genomesrs431905510
hgdprs431905510
ensemblrs431905510
geneviewrs431905510
scholarrs431905510
googlers431905510
pharmgkbrs431905510
gwascentralrs431905510
openSNPrs431905510
23andMers431905510
SNPshotrs431905510
SNPdbers431905510
MSV3drs431905510
GWAS Ctlgrs431905510
Max Magnitude0
ClinVar
Risk rs431905510(A;A) rs431905510(C;C)
Alt rs431905510(A;A) rs431905510(C;C)
Reference Rs431905510(G;G)
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.19163734C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000035019.26,