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rs74315463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315463(A;A)
Make rs74315463(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627051
GeneARSA
is asnp
is mentioned by
dbSNPrs74315463
ebirs74315463
HLIrs74315463
Exacrs74315463
Varsomers74315463
Maprs74315463
PheGenIrs74315463
hapmaprs74315463
1000 genomesrs74315463
hgdprs74315463
ensemblrs74315463
gopubmedrs74315463
geneviewrs74315463
scholarrs74315463
googlers74315463
pharmgkbrs74315463
gwascentralrs74315463
openSNPrs74315463
23andMers74315463
23andMe allrs74315463
SNP Nexus

SNPshotrs74315463
SNPdbers74315463
MSV3drs74315463
GWAS Ctlgrs74315463
Max Magnitude0
OMIM607574
Desc
Variant0018
Relatedalso
ClinVar
Risk rs74315463(A;A)
Alt rs74315463(A;A)
Reference rs74315463(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065479C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003212.2,