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rs74315465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315465(C;G)
Make rs74315465(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50627012
GeneARSA
is asnp
is mentioned by
dbSNPrs74315465
ebirs74315465
HLIrs74315465
Exacrs74315465
Varsomers74315465
Maprs74315465
PheGenIrs74315465
hapmaprs74315465
1000 genomesrs74315465
hgdprs74315465
ensemblrs74315465
gopubmedrs74315465
geneviewrs74315465
scholarrs74315465
googlers74315465
pharmgkbrs74315465
gwascentralrs74315465
openSNPrs74315465
23andMers74315465
23andMe allrs74315465
SNP Nexus

SNPshotrs74315465
SNPdbers74315465
MSV3drs74315465
GWAS Ctlgrs74315465
Max Magnitude0
OMIM607574
Desc
Variant0020
Relatedalso
ClinVar
Risk rs74315465(G;G)
Alt rs74315465(G;G)
Reference rs74315465(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065440G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003214.2,