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rs121434582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434582(A;A)
Make rs121434582(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position95643044
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs121434582
ebirs121434582
HLIrs121434582
Exacrs121434582
Varsomers121434582
Maprs121434582
PheGenIrs121434582
hapmaprs121434582
1000 genomesrs121434582
hgdprs121434582
ensemblrs121434582
gopubmedrs121434582
geneviewrs121434582
scholarrs121434582
googlers121434582
pharmgkbrs121434582
gwascentralrs121434582
openSNPrs121434582
23andMers121434582
23andMe allrs121434582
SNP Nexus

SNPshotrs121434582
SNPdbers121434582
MSV3drs121434582
GWAS Ctlgrs121434582
Max Magnitude0
OMIM138250
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434582(A,T;A,T)
Alt rs121434582(A,T;A,T)
Reference rs121434582(G;G)
Significance Pathogenic
Disease Cutis laxa-corneal clouding-oligophrenia syndrome
Variation info
Gene ALDH18A1
CLNDBN Cutis laxa-corneal clouding-oligophrenia syndrome
Reversed 1
HGVS NC_000010.10:g.97402801C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017465.27,