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rs869320672

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320672(C;C)
Make rs869320672(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position74071411
GeneALDH6A1, BBOF1
is asnp
is mentioned by
dbSNPrs869320672
ebirs869320672
HLIrs869320672
Exacrs869320672
Varsomers869320672
Maprs869320672
PheGenIrs869320672
hapmaprs869320672
1000 genomesrs869320672
hgdprs869320672
ensemblrs869320672
gopubmedrs869320672
geneviewrs869320672
scholarrs869320672
googlers869320672
pharmgkbrs869320672
gwascentralrs869320672
openSNPrs869320672
23andMers869320672
23andMe allrs869320672
SNP Nexus

SNPshotrs869320672
SNPdbers869320672
MSV3drs869320672
GWAS Ctlgrs869320672
Max Magnitude0
ClinVar
Risk rs869320672(C;C)
Alt rs869320672(C;C)
Reference rs869320672(T;T)
Significance Pathogenic
Disease Methylmalonate semialdehyde dehydrogenase deficiency
Variation info
Gene ALDH6A1
CLNDBN Methylmalonate semialdehyde dehydrogenase deficiency
Reversed 1
HGVS NC_000014.8:g.74538114A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190335.2,