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rs794727904

From SNPedia

Merged intors80338823
Orientationminus
Stabilizedminus
Geno Mag Summary
(GCAGCTGTGAC;GCAGCTGTGAC) 0 common in clinvar
Make rs794727904(-;-)
Make rs794727904(-;GCAGCTGTGAC)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50625257
GeneARSA
is asnp
is mentioned by
dbSNPrs794727904
ClinGenrs794727904
ebirs794727904
HLIrs794727904
Exacrs794727904
Varsomers794727904
Maprs794727904
PheGenIrs794727904
hapmaprs794727904
1000 genomesrs794727904
hgdprs794727904
ensemblrs794727904
gopubmedrs794727904
geneviewrs794727904
scholarrs794727904
googlers794727904
pharmgkbrs794727904
gwascentralrs794727904
openSNPrs794727904
23andMers794727904
23andMe allrs794727904
SNP Nexus

SNPshotrs794727904
SNPdbers794727904
MSV3drs794727904
GWAS Ctlgrs794727904
StatusMerged into rs80338823
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs794727904(GCAGCTGTGAC;GCAGCTGTGAC)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063685_51063695delGTCACAGCTGC
CLNSRC
CLNACC RCV000180166.2,