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rs74315472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome22
Position50626618
GeneARSA
is asnp
is mentioned by
dbSNPrs74315472
ebirs74315472
HLIrs74315472
Exacrs74315472
Varsomers74315472
Maprs74315472
PheGenIrs74315472
hapmaprs74315472
1000 genomesrs74315472
hgdprs74315472
ensemblrs74315472
gopubmedrs74315472
geneviewrs74315472
scholarrs74315472
googlers74315472
pharmgkbrs74315472
gwascentralrs74315472
openSNPrs74315472
23andMers74315472
23andMe allrs74315472
SNP Nexus

SNPshotrs74315472
SNPdbers74315472
MSV3drs74315472
GWAS Ctlgrs74315472
Max Magnitude0
OMIM607574
Desc
Variant0027
Relatedalso
rs74315472, also known as c.827C>T, p.Thr276Met and T276M, is a mutation in the ARSA gene on chromosome 22.

The very rare rs74315472(T) allele is reported to lead, when inherited in two copies or as a compound heterozygote, to late-infantile Metachromatic leukodystrophy. This mutation is reported in Lebanese and Australian populations.[PMID 8104633]

NOTE for 23andMe users: Your data for this SNP is not believable and should be ignored. The minor allele for this SNP is quite rare, as can be seen in several major databases, yet the frequency of this (minor) allele is far higher as reported by 23andMe to it's customers. At this time, it is not known if the problem is restricted to 23andMe customers, or if other companies using similiar (Illumina) microarrays are also mis-reporting the results for this allele. If you have additional information from your own data that you would like to share with SNPedia to help shed light on this problem, feel free to contact us.

see also OMIM 607574.0027


ClinVar
Risk rs74315472(T;T)
Alt rs74315472(T;T)
Reference rs74315472(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065046G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003221.2, RCV000169246.1,