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rs72547571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547571(C;T)
Make rs72547571(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position19663335
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547571
ebirs72547571
HLIrs72547571
Exacrs72547571
Varsomers72547571
Maprs72547571
PheGenIrs72547571
hapmaprs72547571
1000 genomesrs72547571
hgdprs72547571
ensemblrs72547571
gopubmedrs72547571
geneviewrs72547571
scholarrs72547571
googlers72547571
pharmgkbrs72547571
gwascentralrs72547571
openSNPrs72547571
23andMers72547571
23andMe allrs72547571
SNP Nexus

SNPshotrs72547571
SNPdbers72547571
MSV3drs72547571
GWAS Ctlgrs72547571
Max Magnitude0

rs72547571, also known as P315S or Pro315Ser, is a mutation in the fatty aldehyde dehydrogenase ALDH3A2 gene.

Inherited as an autosomal recessive, two copies of the risk allele rs72547571(T), or one copy plus another defective ALDH3A2 allele, leads to Sjogren-Larsson syndrome.

OMIM609523
Desc
Variant0005
Relatedalso
ClinVar
Risk rs72547571(T;T)
Alt rs72547571(T;T)
Reference rs72547571(C;C)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19566648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001707.4,