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rs1057516907

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516907(-;-)
Make rs1057516907(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626973
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516907
dbSNP (old)rs1057516907
ClinGenrs1057516907
ebirs1057516907
HLIrs1057516907
Exacrs1057516907
Gnomadrs1057516907
Varsomers1057516907
Maprs1057516907
PheGenIrs1057516907
Biobankrs1057516907
1000 genomesrs1057516907
hgdprs1057516907
ensemblrs1057516907
gopubmedrs1057516907
geneviewrs1057516907
scholarrs1057516907
googlers1057516907
pharmgkbrs1057516907
gwascentralrs1057516907
openSNPrs1057516907
23andMers1057516907
23andMe allrs1057516907
SNPshotrs1057516907
SNPdbers1057516907
MSV3drs1057516907
GWAS Ctlgrs1057516907
Max Magnitude0
ClinVar
Risk rs1057516907(-;-)
Alt rs1057516907(-;-)
Reference Rs1057516907(C;C)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065401delG
CLNSRC
CLNACC RCV000409957.1,