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rs1057517036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517036(-;-)
Make rs1057517036(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50625935
GeneARSA
is asnp
is mentioned by
dbSNPrs1057517036
dbSNP (classic)rs1057517036
ClinGenrs1057517036
ebirs1057517036
HLIrs1057517036
Exacrs1057517036
Gnomadrs1057517036
Varsomers1057517036
LitVarrs1057517036
Maprs1057517036
PheGenIrs1057517036
Biobankrs1057517036
1000 genomesrs1057517036
hgdprs1057517036
ensemblrs1057517036
geneviewrs1057517036
scholarrs1057517036
googlers1057517036
pharmgkbrs1057517036
gwascentralrs1057517036
openSNPrs1057517036
23andMers1057517036
23andMe allrs1057517036
SNPshotrs1057517036
SNPdbers1057517036
MSV3drs1057517036
GWAS Ctlgrs1057517036
Max Magnitude0
ClinVar
Risk rs1057517036(-;-)
Alt rs1057517036(-;-)
Reference Rs1057517036(G;G)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064363delC
CLNSRC
CLNACC RCV000410748.1,