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rs72552258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552258(A;A)
Make rs72552258(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74065249
GeneALDH6A1, C14orf45
is asnp
is mentioned by
dbSNPrs72552258
ebirs72552258
HLIrs72552258
Exacrs72552258
Varsomers72552258
Maprs72552258
PheGenIrs72552258
hapmaprs72552258
1000 genomesrs72552258
hgdprs72552258
ensemblrs72552258
gopubmedrs72552258
geneviewrs72552258
scholarrs72552258
googlers72552258
pharmgkbrs72552258
gwascentralrs72552258
openSNPrs72552258
23andMers72552258
23andMe allrs72552258
SNP Nexus

SNPshotrs72552258
SNPdbers72552258
MSV3drs72552258
GWAS Ctlgrs72552258
Max Magnitude0
OMIM603178
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72552258(A;A)
Alt rs72552258(A;A)
Reference rs72552258(G;G)
Significance Pathogenic
Disease Methylmalonate semialdehyde dehydrogenase deficiency
Variation info
Gene BBOF1 ALDH6A1
CLNDBN Methylmalonate semialdehyde dehydrogenase deficiency
Reversed 1
HGVS NC_000014.8:g.74531952C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006996.3,