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rs1057517073

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517073(-;-)
Make rs1057517073(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626242
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517073
dbSNP (old)rs1057517073
ClinGenrs1057517073
ebirs1057517073
HLIrs1057517073
Exacrs1057517073
Gnomadrs1057517073
Varsomers1057517073
Maprs1057517073
PheGenIrs1057517073
Biobankrs1057517073
1000 genomesrs1057517073
hgdprs1057517073
ensemblrs1057517073
gopubmedrs1057517073
geneviewrs1057517073
scholarrs1057517073
googlers1057517073
pharmgkbrs1057517073
gwascentralrs1057517073
openSNPrs1057517073
23andMers1057517073
23andMe allrs1057517073
SNPshotrs1057517073
SNPdbers1057517073
MSV3drs1057517073
GWAS Ctlgrs1057517073
Max Magnitude0
ClinVar
Risk rs1057517073(-;-)
Alt rs1057517073(-;-)
Reference Rs1057517073(C;C)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064670delG
CLNSRC
CLNACC RCV000411756.1,