Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203984(A;A)
Make rs118203984(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position24528049
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs118203984
ebirs118203984
HLIrs118203984
Exacrs118203984
Varsomers118203984
Maprs118203984
PheGenIrs118203984
hapmaprs118203984
1000 genomesrs118203984
hgdprs118203984
ensemblrs118203984
gopubmedrs118203984
geneviewrs118203984
scholarrs118203984
googlers118203984
pharmgkbrs118203984
gwascentralrs118203984
openSNPrs118203984
23andMers118203984
23andMe allrs118203984
SNP Nexus

SNPshotrs118203984
SNPdbers118203984
MSV3drs118203984
GWAS Ctlgrs118203984
Max Magnitude0
OMIM610045
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118203984(A;A)
Alt rs118203984(A;A)
Reference rs118203984(G;G)
Significance Pathogenic
Disease Succinate-semialdehyde dehydrogenase deficiency
Variation info
Gene ALDH5A1
CLNDBN Succinate-semialdehyde dehydrogenase deficiency
Reversed 0
HGVS NC_000006.11:g.24528277G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001424.3,