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rs74315460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315460(A;A)
Make rs74315460(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627368
GeneARSA
is asnp
is mentioned by
dbSNPrs74315460
ebirs74315460
HLIrs74315460
Exacrs74315460
Varsomers74315460
Maprs74315460
PheGenIrs74315460
hapmaprs74315460
1000 genomesrs74315460
hgdprs74315460
ensemblrs74315460
gopubmedrs74315460
geneviewrs74315460
scholarrs74315460
googlers74315460
pharmgkbrs74315460
gwascentralrs74315460
openSNPrs74315460
23andMers74315460
23andMe allrs74315460
SNP Nexus

SNPshotrs74315460
SNPdbers74315460
MSV3drs74315460
GWAS Ctlgrs74315460
Max Magnitude0
OMIM607574
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74315460(A;A)
Alt rs74315460(A;A)
Reference rs74315460(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, severe
Reversed 1
HGVS NC_000022.10:g.51065796C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003207.2,