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rs1057516595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516595(-;TA)
Make rs1057516595(TA;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627403
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516595
dbSNP (old)rs1057516595
ClinGenrs1057516595
ebirs1057516595
HLIrs1057516595
Exacrs1057516595
Gnomadrs1057516595
Varsomers1057516595
LitVarrs1057516595
Maprs1057516595
PheGenIrs1057516595
Biobankrs1057516595
1000 genomesrs1057516595
hgdprs1057516595
ensemblrs1057516595
gopubmedrs1057516595
geneviewrs1057516595
scholarrs1057516595
googlers1057516595
pharmgkbrs1057516595
gwascentralrs1057516595
openSNPrs1057516595
23andMers1057516595
23andMe allrs1057516595
SNPshotrs1057516595
SNPdbers1057516595
MSV3drs1057516595
GWAS Ctlgrs1057516595
Max Magnitude0
ClinVar
Risk rs1057516595(TA;TA)
Alt rs1057516595(TA;TA)
Reference Rs1057516595(-;-)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065831_51065832insTA
CLNSRC
CLNACC RCV000411185.1,