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rs118203983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203983(C;T)
Make rs118203983(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position24528057
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs118203983
ebirs118203983
HLIrs118203983
Exacrs118203983
Varsomers118203983
Maprs118203983
PheGenIrs118203983
hapmaprs118203983
1000 genomesrs118203983
hgdprs118203983
ensemblrs118203983
gopubmedrs118203983
geneviewrs118203983
scholarrs118203983
googlers118203983
pharmgkbrs118203983
gwascentralrs118203983
openSNPrs118203983
23andMers118203983
23andMe allrs118203983
SNP Nexus

SNPshotrs118203983
SNPdbers118203983
MSV3drs118203983
GWAS Ctlgrs118203983
Max Magnitude0
OMIM610045
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203983(T;T)
Alt rs118203983(T;T)
Reference rs118203983(C;C)
Significance Pathogenic
Disease Succinate-semialdehyde dehydrogenase deficiency
Variation info
Gene ALDH5A1
CLNDBN Succinate-semialdehyde dehydrogenase deficiency
Reversed 0
HGVS NC_000006.11:g.24528285C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001423.2,