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rs28940893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940893(C;T)
Make rs28940893(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position50625392
GeneARSA
is asnp
is mentioned by
dbSNPrs28940893
ebirs28940893
HLIrs28940893
Exacrs28940893
Varsomers28940893
Maprs28940893
PheGenIrs28940893
hapmaprs28940893
1000 genomesrs28940893
hgdprs28940893
ensemblrs28940893
gopubmedrs28940893
geneviewrs28940893
scholarrs28940893
googlers28940893
pharmgkbrs28940893
gwascentralrs28940893
openSNPrs28940893
23andMers28940893
23andMe allrs28940893
SNP Nexus

SNPshotrs28940893
SNPdbers28940893
MSV3drs28940893
GWAS Ctlgrs28940893
Max Magnitude0
OMIM607574
DescARYLSULFATASE A, ALLELE A
Variant0004
Relatedalso
Neighborrs28940895
Distance54


ClinVar
Risk rs28940893(T;T)
Alt rs28940893(T;T)
Reference rs28940893(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy Arylsulfatase a Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, juvenile type Arylsulfatase a, allele a Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063820G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003195.3, RCV000003196.3, RCV000003197.3, RCV000020314.4,



[PMID 1670590] Molecular basis of different forms of metachromatic leukodystrophy.


[PMID 7866401] Molecular genetics of metachromatic leukodystrophy.


[PMID 8095918] Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.


[PMID 9090526] Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.


[PMID 11777924] Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.