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rs863223315

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223315(A;A)
Make rs863223315(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position95613741
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs863223315
ebirs863223315
HLIrs863223315
Exacrs863223315
Varsomers863223315
Maprs863223315
PheGenIrs863223315
hapmaprs863223315
1000 genomesrs863223315
hgdprs863223315
ensemblrs863223315
gopubmedrs863223315
geneviewrs863223315
scholarrs863223315
googlers863223315
pharmgkbrs863223315
gwascentralrs863223315
openSNPrs863223315
23andMers863223315
23andMe allrs863223315
SNP Nexus

SNPshotrs863223315
SNPdbers863223315
MSV3drs863223315
GWAS Ctlgrs863223315
Max Magnitude0
ClinVar
Risk rs863223315(A;A)
Alt rs863223315(A;A)
Reference rs863223315(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.97373498C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022579.28,