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rs1057517237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517237(-;-)
Make rs1057517237(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50625287
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517237
dbSNP (classic)rs1057517237
ClinGenrs1057517237
ebirs1057517237
HLIrs1057517237
Exacrs1057517237
Gnomadrs1057517237
Varsomers1057517237
LitVarrs1057517237
Maprs1057517237
PheGenIrs1057517237
Biobankrs1057517237
1000 genomesrs1057517237
hgdprs1057517237
ensemblrs1057517237
geneviewrs1057517237
scholarrs1057517237
googlers1057517237
pharmgkbrs1057517237
gwascentralrs1057517237
openSNPrs1057517237
23andMers1057517237
23andMe allrs1057517237
SNPshotrs1057517237
SNPdbers1057517237
MSV3drs1057517237
GWAS Ctlgrs1057517237
Max Magnitude0
ClinVar
Risk rs1057517237(-;-)
Alt rs1057517237(-;-)
Reference Rs1057517237(T;T)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51063715delA
CLNSRC
CLNACC RCV000409867.1,