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rs1057516288

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057516288(-;-)
Make rs1057516288(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627568
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516288
dbSNP (old)rs1057516288
ClinGenrs1057516288
ebirs1057516288
HLIrs1057516288
Exacrs1057516288
Gnomadrs1057516288
Varsomers1057516288
Maprs1057516288
PheGenIrs1057516288
Biobankrs1057516288
1000 genomesrs1057516288
hgdprs1057516288
ensemblrs1057516288
gopubmedrs1057516288
geneviewrs1057516288
scholarrs1057516288
googlers1057516288
pharmgkbrs1057516288
gwascentralrs1057516288
openSNPrs1057516288
23andMers1057516288
23andMe allrs1057516288
SNPshotrs1057516288
SNPdbers1057516288
MSV3drs1057516288
GWAS Ctlgrs1057516288
Max Magnitude0
ClinVar
Risk rs1057516288(-;-)
Alt rs1057516288(-;-)
Reference Rs1057516288(TG;TG)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065996_51065997delCA
CLNSRC
CLNACC RCV000410209.1,