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rs483352911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGGGAACAAG;CGGGAACAAG) 0 common in clinvar
Make rs483352911(-;-)
Make rs483352911(-;CGGGAACAAG)
ReferenceGRCh38 38.1/142
Chromosome22
Position19177120
GeneSLC25A1
is asnp
is mentioned by
dbSNPrs483352911
ebirs483352911
HLIrs483352911
Exacrs483352911
Varsomers483352911
Maprs483352911
PheGenIrs483352911
hapmaprs483352911
1000 genomesrs483352911
hgdprs483352911
ensemblrs483352911
gopubmedrs483352911
geneviewrs483352911
scholarrs483352911
googlers483352911
pharmgkbrs483352911
gwascentralrs483352911
openSNPrs483352911
23andMers483352911
23andMe allrs483352911
SNP Nexus

SNPshotrs483352911
SNPdbers483352911
MSV3drs483352911
GWAS Ctlgrs483352911
Max Magnitude0
ClinVar
Risk rs483352911(;)
Alt rs483352911(;)
Reference rs483352911(CGGGAACAAG;CGGGAACAAG)
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.19164633_19164642delCTTGTTCCCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000035022.18,