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rs875989801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTA;GTA) 0 common in clinvar
Make rs875989801(GTA;TT)
Make rs875989801(TT;TT)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position24528167
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs875989801
dbSNP (classic)rs875989801
ClinGenrs875989801
ebirs875989801
HLIrs875989801
Exacrs875989801
Gnomadrs875989801
Varsomers875989801
LitVarrs875989801
Maprs875989801
PheGenIrs875989801
Biobankrs875989801
1000 genomesrs875989801
hgdprs875989801
ensemblrs875989801
geneviewrs875989801
scholarrs875989801
googlers875989801
pharmgkbrs875989801
gwascentralrs875989801
openSNPrs875989801
23andMers875989801
SNPshotrs875989801
SNPdbers875989801
MSV3drs875989801
GWAS Ctlgrs875989801
Max Magnitude0
ClinVar
Risk rs875989801(TT;TT)
Alt rs875989801(TT;TT)
Reference Rs875989801(GTA;GTA)
Significance Pathogenic
Disease Succinate-semialdehyde dehydrogenase deficiency
Variation info
Gene ALDH5A1
CLNDBN Succinate-semialdehyde dehydrogenase deficiency
Reversed 0
HGVS NC_000006.11:g.24528395_24528397delGTAinsTT
CLNSRC
CLNACC RCV000211103.1,