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rs74315477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315477(A;A)
Make rs74315477(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625674
GeneARSA
is asnp
is mentioned by
dbSNPrs74315477
ebirs74315477
HLIrs74315477
Exacrs74315477
Varsomers74315477
Maprs74315477
PheGenIrs74315477
hapmaprs74315477
1000 genomesrs74315477
hgdprs74315477
ensemblrs74315477
gopubmedrs74315477
geneviewrs74315477
scholarrs74315477
googlers74315477
pharmgkbrs74315477
gwascentralrs74315477
openSNPrs74315477
23andMers74315477
23andMe allrs74315477
SNP Nexus

SNPshotrs74315477
SNPdbers74315477
MSV3drs74315477
GWAS Ctlgrs74315477
Max Magnitude0
OMIM607574
Desc
Variant0034
Relatedalso
ClinVar
Risk rs74315477(A,C;A,C)
Alt rs74315477(A,C;A,C)
Reference rs74315477(G;G)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy, mild
Reversed 1
HGVS NC_000022.10:g.51064102C>G; NC_000022.10:g.51064102C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000152792.3, RCV000003228.2,