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rs1057516730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516730(C;T)
Make rs1057516730(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627210
GeneARSA
is asnp
is mentioned by
dbSNPrs1057516730
dbSNP (classic)rs1057516730
ClinGenrs1057516730
ebirs1057516730
HLIrs1057516730
Exacrs1057516730
Gnomadrs1057516730
Varsomers1057516730
LitVarrs1057516730
Maprs1057516730
PheGenIrs1057516730
Biobankrs1057516730
1000 genomesrs1057516730
hgdprs1057516730
ensemblrs1057516730
geneviewrs1057516730
scholarrs1057516730
googlers1057516730
pharmgkbrs1057516730
gwascentralrs1057516730
openSNPrs1057516730
23andMers1057516730
23andMe allrs1057516730
SNPshotrs1057516730
SNPdbers1057516730
MSV3drs1057516730
GWAS Ctlgrs1057516730
Max Magnitude0
ClinVar
Risk rs1057516730(T;T)
Alt rs1057516730(T;T)
Reference Rs1057516730(C;C)
Significance Probable-Pathogenic
Disease Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065638G>A
CLNSRC
CLNACC RCV000410152.1,