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rs1057516373

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516373(-;AT)
Make rs1057516373(AT;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626842
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516373
dbSNP (old)rs1057516373
ClinGenrs1057516373
ebirs1057516373
HLIrs1057516373
Exacrs1057516373
Gnomadrs1057516373
Varsomers1057516373
Maprs1057516373
PheGenIrs1057516373
Biobankrs1057516373
1000 genomesrs1057516373
hgdprs1057516373
ensemblrs1057516373
gopubmedrs1057516373
geneviewrs1057516373
scholarrs1057516373
googlers1057516373
pharmgkbrs1057516373
gwascentralrs1057516373
openSNPrs1057516373
23andMers1057516373
23andMe allrs1057516373
SNPshotrs1057516373
SNPdbers1057516373
MSV3drs1057516373
GWAS Ctlgrs1057516373
Max Magnitude0
ClinVar
Risk rs1057516373(AT;AT)
Alt rs1057516373(AT;AT)
Reference Rs1057516373(-;-)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065271_51065272dupAT
CLNSRC
CLNACC RCV000409278.1,