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rs74315485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315485(A;A)
Make rs74315485(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625396
GeneARSA
is asnp
is mentioned by
dbSNPrs74315485
ebirs74315485
HLIrs74315485
Exacrs74315485
Varsomers74315485
Maprs74315485
PheGenIrs74315485
hapmaprs74315485
1000 genomesrs74315485
hgdprs74315485
ensemblrs74315485
gopubmedrs74315485
geneviewrs74315485
scholarrs74315485
googlers74315485
pharmgkbrs74315485
gwascentralrs74315485
openSNPrs74315485
23andMers74315485
23andMe allrs74315485
SNP Nexus

SNPshotrs74315485
SNPdbers74315485
MSV3drs74315485
GWAS Ctlgrs74315485
Max Magnitude0
OMIM607574
Desc
Variant0047
Relatedalso
ClinVar
Risk rs74315485(A;A)
Alt rs74315485(A;A)
Reference rs74315485(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, juvenile type
Reversed 1
HGVS NC_000022.10:g.51063824G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003240.2,