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rs367863044

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367863044(A;A)
Make rs367863044(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position74060647
GeneALDH6A1, BBOF1
is asnp
is mentioned by
dbSNPrs367863044
ebirs367863044
HLIrs367863044
Exacrs367863044
Varsomers367863044
Maprs367863044
PheGenIrs367863044
hapmaprs367863044
1000 genomesrs367863044
hgdprs367863044
ensemblrs367863044
gopubmedrs367863044
geneviewrs367863044
scholarrs367863044
googlers367863044
pharmgkbrs367863044
gwascentralrs367863044
openSNPrs367863044
23andMers367863044
23andMe allrs367863044
SNP Nexus

SNPshotrs367863044
SNPdbers367863044
MSV3drs367863044
GWAS Ctlgrs367863044
Max Magnitude0
ClinVar
Risk rs367863044(A;A)
Alt rs367863044(A;A)
Reference rs367863044(G;G)
Significance Pathogenic
Disease Methylmalonate semialdehyde dehydrogenase deficiency
Variation info
Gene BBOF1 ALDH6A1
CLNDBN Methylmalonate semialdehyde dehydrogenase deficiency
Reversed 0
HGVS NC_000014.8:g.74527350G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190334.2,