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rs1057517429

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCGGCC;GCCGGCC) 0 common in clinvar
Make rs1057517429(-;-)
Make rs1057517429(-;GCCGGCC)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627017
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517429
dbSNP (old)rs1057517429
ClinGenrs1057517429
ebirs1057517429
HLIrs1057517429
Exacrs1057517429
Gnomadrs1057517429
Varsomers1057517429
Maprs1057517429
PheGenIrs1057517429
Biobankrs1057517429
1000 genomesrs1057517429
hgdprs1057517429
ensemblrs1057517429
gopubmedrs1057517429
geneviewrs1057517429
scholarrs1057517429
googlers1057517429
pharmgkbrs1057517429
gwascentralrs1057517429
openSNPrs1057517429
23andMers1057517429
23andMe allrs1057517429
SNPshotrs1057517429
SNPdbers1057517429
MSV3drs1057517429
GWAS Ctlgrs1057517429
Max Magnitude0
ClinVar
Risk rs1057517429(-;-)
Alt rs1057517429(-;-)
Reference Rs1057517429(GCCGGCC;GCCGGCC)
Significance Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065445_51065451delGGCCGGC
CLNSRC
CLNACC RCV000410974.1,