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rs796065046

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065046(C;T)
Make rs796065046(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position74072539
GeneALDH6A1, BBOF1
is asnp
is mentioned by
dbSNPrs796065046
ebirs796065046
HLIrs796065046
Exacrs796065046
Varsomers796065046
Maprs796065046
PheGenIrs796065046
hapmaprs796065046
1000 genomesrs796065046
hgdprs796065046
ensemblrs796065046
gopubmedrs796065046
geneviewrs796065046
scholarrs796065046
googlers796065046
pharmgkbrs796065046
gwascentralrs796065046
openSNPrs796065046
23andMers796065046
23andMe allrs796065046
SNP Nexus

SNPshotrs796065046
SNPdbers796065046
MSV3drs796065046
GWAS Ctlgrs796065046
Max Magnitude0
ClinVar
Risk rs796065046(T;T)
Alt rs796065046(T;T)
Reference rs796065046(C;C)
Significance Pathogenic
Disease Methylmalonate semialdehyde dehydrogenase deficiency
Variation info
Gene ALDH6A1
CLNDBN Methylmalonate semialdehyde dehydrogenase deficiency
Reversed 1
HGVS NC_000014.8:g.74539242G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190333.2,