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rs863225044

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225044(C;T)
Make rs863225044(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position95637328
GeneALDH18A1
is asnp
is mentioned by
dbSNPrs863225044
ebirs863225044
HLIrs863225044
Exacrs863225044
Varsomers863225044
Maprs863225044
PheGenIrs863225044
hapmaprs863225044
1000 genomesrs863225044
hgdprs863225044
ensemblrs863225044
gopubmedrs863225044
geneviewrs863225044
scholarrs863225044
googlers863225044
pharmgkbrs863225044
gwascentralrs863225044
openSNPrs863225044
23andMers863225044
23andMe allrs863225044
SNP Nexus

SNPshotrs863225044
SNPdbers863225044
MSV3drs863225044
GWAS Ctlgrs863225044
Max Magnitude0
ClinVar
Risk rs863225044(T;T)
Alt rs863225044(T;T)
Reference rs863225044(C;C)
Significance Pathogenic
Disease Cutis laxa
Variation info
Gene ALDH18A1
CLNDBN Cutis laxa, autosomal dominant 3
Reversed 1
HGVS NC_000010.10:g.97397085G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201215.3,