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rs1057516638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516638(-;-)
Make rs1057516638(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626204
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516638
dbSNP (classic)rs1057516638
ClinGenrs1057516638
ebirs1057516638
HLIrs1057516638
Exacrs1057516638
Gnomadrs1057516638
Varsomers1057516638
LitVarrs1057516638
Maprs1057516638
PheGenIrs1057516638
Biobankrs1057516638
1000 genomesrs1057516638
hgdprs1057516638
ensemblrs1057516638
geneviewrs1057516638
scholarrs1057516638
googlers1057516638
pharmgkbrs1057516638
gwascentralrs1057516638
openSNPrs1057516638
23andMers1057516638
23andMe allrs1057516638
SNPshotrs1057516638
SNPdbers1057516638
MSV3drs1057516638
GWAS Ctlgrs1057516638
Max Magnitude0
ClinVar
Risk rs1057516638(-;-)
Alt rs1057516638(-;-)
Reference Rs1057516638(G;G)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064632delC
CLNSRC
CLNACC RCV000410340.1,