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rs74315467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315467(C;T)
Make rs74315467(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626877
GeneARSA
is asnp
is mentioned by
dbSNPrs74315467
dbSNP (old)rs74315467
ClinGenrs74315467
ebirs74315467
HLIrs74315467
Exacrs74315467
Gnomadrs74315467
Varsomers74315467
Maprs74315467
PheGenIrs74315467
Biobankrs74315467
1000 genomesrs74315467
hgdprs74315467
ensemblrs74315467
gopubmedrs74315467
geneviewrs74315467
scholarrs74315467
googlers74315467
pharmgkbrs74315467
gwascentralrs74315467
openSNPrs74315467
23andMers74315467
23andMe allrs74315467
SNP Nexus

SNPshotrs74315467
SNPdbers74315467
MSV3drs74315467
GWAS Ctlgrs74315467
Max Magnitude0
OMIM607574
Desc
Variant0022
Relatedalso
ClinVar
Risk rs74315467(A;A) rs74315467(T;T)
Alt rs74315467(A;A) rs74315467(T;T)
Reference Rs74315467(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065305G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003216.2,


[PMID 7906588] Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.