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rs74315461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315461(A;A)
Make rs74315461(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627261
GeneARSA
is asnp
is mentioned by
dbSNPrs74315461
ebirs74315461
HLIrs74315461
Exacrs74315461
Varsomers74315461
Maprs74315461
PheGenIrs74315461
hapmaprs74315461
1000 genomesrs74315461
hgdprs74315461
ensemblrs74315461
gopubmedrs74315461
geneviewrs74315461
scholarrs74315461
googlers74315461
pharmgkbrs74315461
gwascentralrs74315461
openSNPrs74315461
23andMers74315461
23andMe allrs74315461
SNP Nexus

SNPshotrs74315461
SNPdbers74315461
MSV3drs74315461
GWAS Ctlgrs74315461
Max Magnitude0
OMIM607574
Desc
Variant0015
Relatedalso
ClinVar
Risk rs74315461(A,T;A,T)
Alt rs74315461(A,T;A,T)
Reference rs74315461(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy not provided
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy not provided
Reversed 1
HGVS NC_000022.10:g.51065689C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003209.2, RCV000078945.4,