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rs121434583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434583(C;T)
Make rs121434583(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position95606800
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs121434583
ebirs121434583
HLIrs121434583
Exacrs121434583
Varsomers121434583
Maprs121434583
PheGenIrs121434583
hapmaprs121434583
1000 genomesrs121434583
hgdprs121434583
ensemblrs121434583
gopubmedrs121434583
geneviewrs121434583
scholarrs121434583
googlers121434583
pharmgkbrs121434583
gwascentralrs121434583
openSNPrs121434583
23andMers121434583
23andMe allrs121434583
SNP Nexus

SNPshotrs121434583
SNPdbers121434583
MSV3drs121434583
GWAS Ctlgrs121434583
Max Magnitude0
OMIM138250
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434583(T;T)
Alt rs121434583(T;T)
Reference rs121434583(C;C)
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.97366557G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017466.27,