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rs199476352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476352(C;T)
Make rs199476352(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50627375
GeneARSA
is asnp
is mentioned by
dbSNPrs199476352
dbSNP (old)rs199476352
ClinGenrs199476352
ebirs199476352
HLIrs199476352
Exacrs199476352
Gnomadrs199476352
Varsomers199476352
Maprs199476352
PheGenIrs199476352
Biobankrs199476352
1000 genomesrs199476352
hgdprs199476352
ensemblrs199476352
gopubmedrs199476352
geneviewrs199476352
scholarrs199476352
googlers199476352
pharmgkbrs199476352
gwascentralrs199476352
openSNPrs199476352
23andMers199476352
23andMe allrs199476352
SNPshotrs199476352
SNPdbers199476352
MSV3drs199476352
GWAS Ctlgrs199476352
Max Magnitude0
ClinVar
Risk rs199476352(T;T)
Alt rs199476352(T;T)
Reference Rs199476352(C;C)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51065803G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000058956.1, RCV000409776.1,