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rs74315483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315483(A;A)
Make rs74315483(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626682
GeneARSA
is asnp
is mentioned by
dbSNPrs74315483
ebirs74315483
HLIrs74315483
Exacrs74315483
Varsomers74315483
Maprs74315483
PheGenIrs74315483
hapmaprs74315483
1000 genomesrs74315483
hgdprs74315483
ensemblrs74315483
gopubmedrs74315483
geneviewrs74315483
scholarrs74315483
googlers74315483
pharmgkbrs74315483
gwascentralrs74315483
openSNPrs74315483
23andMers74315483
23andMe allrs74315483
SNP Nexus

SNPshotrs74315483
SNPdbers74315483
MSV3drs74315483
GWAS Ctlgrs74315483
Max Magnitude0
OMIM607574
Desc
Variant0044
Relatedalso
ClinVar
Risk rs74315483(A;A)
Alt rs74315483(A;A)
Reference Rs74315483(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, late infantile Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065110C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003237.3, RCV000169048.1,