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rs28940895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28940895(C;T)
Make rs28940895(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position50625446
GeneARSA
is asnp
is mentioned by
dbSNPrs28940895
ebirs28940895
HLIrs28940895
Exacrs28940895
Varsomers28940895
Maprs28940895
PheGenIrs28940895
hapmaprs28940895
1000 genomesrs28940895
hgdprs28940895
ensemblrs28940895
gopubmedrs28940895
geneviewrs28940895
scholarrs28940895
googlers28940895
pharmgkbrs28940895
gwascentralrs28940895
openSNPrs28940895
23andMers28940895
23andMe allrs28940895
SNP Nexus

SNPshotrs28940895
SNPdbers28940895
MSV3drs28940895
GWAS Ctlgrs28940895
Max Magnitude0
OMIM607574
DescMETACHROMATIC LEUKODYSTROPHY, ADULT
Variant0045
Relatedalso
Neighborrs28940893
Distance54
Neighborrs2071421
Distance542


ClinVar
Risk rs28940895(T;T)
Alt rs28940895(T;T)
Reference rs28940895(C;C)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, adult type
Reversed 1
HGVS NC_000022.10:g.51063874G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003238.2,