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rs863225045

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225045(A;A)
Make rs863225045(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position95637327
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs863225045
ebirs863225045
HLIrs863225045
Exacrs863225045
Varsomers863225045
Maprs863225045
PheGenIrs863225045
hapmaprs863225045
1000 genomesrs863225045
hgdprs863225045
ensemblrs863225045
gopubmedrs863225045
geneviewrs863225045
scholarrs863225045
googlers863225045
pharmgkbrs863225045
gwascentralrs863225045
openSNPrs863225045
23andMers863225045
23andMe allrs863225045
SNP Nexus

SNPshotrs863225045
SNPdbers863225045
MSV3drs863225045
GWAS Ctlgrs863225045
Max Magnitude0
ClinVar
Risk rs863225045(A,T;A,T)
Alt rs863225045(A,T;A,T)
Reference rs863225045(G;G)
Significance Pathogenic
Disease Cutis laxa
Variation info
Gene ALDH18A1
CLNDBN Cutis laxa, autosomal dominant 3
Reversed 1
HGVS NC_000010.10:g.97397084C>A; NC_000010.10:g.97397084C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201214.3, RCV000201213.3,