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rs28940894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940894(A;C)
Make rs28940894(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626271
GeneARSA
is asnp
is mentioned by
dbSNPrs28940894
ebirs28940894
HLIrs28940894
Exacrs28940894
Varsomers28940894
Maprs28940894
PheGenIrs28940894
hapmaprs28940894
1000 genomesrs28940894
hgdprs28940894
ensemblrs28940894
gopubmedrs28940894
geneviewrs28940894
scholarrs28940894
googlers28940894
pharmgkbrs28940894
gwascentralrs28940894
openSNPrs28940894
23andMers28940894
23andMe allrs28940894
SNP Nexus

SNPshotrs28940894
SNPdbers28940894
MSV3drs28940894
GWAS Ctlgrs28940894
Max Magnitude0
OMIM607574
DescMETACHROMATIC LEUKODYSTROPHY, ADULT
Variant0043
Relatedalso
Neighborrs2071421
Distance283


ClinVar
Risk rs28940894(C;C)
Alt rs28940894(C;C)
Reference rs28940894(A;A)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy, adult type
Reversed 1
HGVS NC_000022.10:g.51064699T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003236.3,