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rs80338823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCAGCTGTGAC;GCAGCTGTGAC) 0 common in clinvar
Make rs80338823(-;-)
Make rs80338823(-;CGCAGCTGTGA)
Make rs80338823(CGCAGCTGTGA;CGCAGCTGTGA)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625258
GeneARSA
is asnp
is mentioned by
dbSNPrs80338823
ebirs80338823
HLIrs80338823
Exacrs80338823
Varsomers80338823
Maprs80338823
PheGenIrs80338823
hapmaprs80338823
1000 genomesrs80338823
hgdprs80338823
ensemblrs80338823
gopubmedrs80338823
geneviewrs80338823
scholarrs80338823
googlers80338823
pharmgkbrs80338823
gwascentralrs80338823
openSNPrs80338823
23andMers80338823
23andMe allrs80338823
SNP Nexus

SNPshotrs80338823
SNPdbers80338823
MSV3drs80338823
GWAS Ctlgrs80338823
Max Magnitude0
ClinVar
Risk rs80338823(;)
Alt rs80338823(;)
Reference rs80338823(GCAGCTGTGAC;GCAGCTGTGAC)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063685_51063695delGTCACAGCTGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000180166.2,