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rs118203982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203982(A;A)
Make rs118203982(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position24504871
GeneALDH5A1
is asnp
is mentioned by
dbSNPrs118203982
dbSNP (classic)rs118203982
ClinGenrs118203982
ebirs118203982
HLIrs118203982
Exacrs118203982
Gnomadrs118203982
Varsomers118203982
LitVarrs118203982
Maprs118203982
PheGenIrs118203982
Biobankrs118203982
1000 genomesrs118203982
hgdprs118203982
ensemblrs118203982
geneviewrs118203982
scholarrs118203982
googlers118203982
pharmgkbrs118203982
gwascentralrs118203982
openSNPrs118203982
23andMers118203982
SNPshotrs118203982
SNPdbers118203982
MSV3drs118203982
GWAS Ctlgrs118203982
Max Magnitude0
OMIM610045
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203982(A;A)
Alt rs118203982(A;A)
Reference Rs118203982(G;G)
Significance Pathogenic
Disease Succinate-semialdehyde dehydrogenase deficiency not provided
Variation info
Gene ALDH5A1
CLNDBN Succinate-semialdehyde dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000006.11:g.24505099G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001422.2, RCV000224440.1,