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rs74315459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315459(A;A)
Make rs74315459(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626202
GeneARSA
is asnp
is mentioned by
dbSNPrs74315459
ebirs74315459
HLIrs74315459
Exacrs74315459
Varsomers74315459
Maprs74315459
PheGenIrs74315459
hapmaprs74315459
1000 genomesrs74315459
hgdprs74315459
ensemblrs74315459
gopubmedrs74315459
geneviewrs74315459
scholarrs74315459
googlers74315459
pharmgkbrs74315459
gwascentralrs74315459
openSNPrs74315459
23andMers74315459
23andMe allrs74315459
SNP Nexus

SNPshotrs74315459
SNPdbers74315459
MSV3drs74315459
GWAS Ctlgrs74315459
Max Magnitude0
OMIM607574
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315459(A;A)
Alt rs74315459(A;A)
Reference rs74315459(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, late infantile
Reversed 1
HGVS NC_000022.10:g.51064630C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003206.2,