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rs1057517346

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517346(-;C)
Make rs1057517346(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627023
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517346
dbSNP (old)rs1057517346
ClinGenrs1057517346
ebirs1057517346
HLIrs1057517346
Exacrs1057517346
Gnomadrs1057517346
Varsomers1057517346
Maprs1057517346
PheGenIrs1057517346
Biobankrs1057517346
1000 genomesrs1057517346
hgdprs1057517346
ensemblrs1057517346
gopubmedrs1057517346
geneviewrs1057517346
scholarrs1057517346
googlers1057517346
pharmgkbrs1057517346
gwascentralrs1057517346
openSNPrs1057517346
23andMers1057517346
23andMe allrs1057517346
SNPshotrs1057517346
SNPdbers1057517346
MSV3drs1057517346
GWAS Ctlgrs1057517346
Max Magnitude0
ClinVar
Risk rs1057517346(C;C)
Alt rs1057517346(C;C)
Reference Rs1057517346(-;-)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065452dupG
CLNSRC
CLNACC RCV000412016.1,