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rs199476389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476389(C;C)
Make rs199476389(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626234
GeneARSA
is asnp
is mentioned by
dbSNPrs199476389
ebirs199476389
HLIrs199476389
Exacrs199476389
Varsomers199476389
Maprs199476389
PheGenIrs199476389
hapmaprs199476389
1000 genomesrs199476389
hgdprs199476389
ensemblrs199476389
gopubmedrs199476389
geneviewrs199476389
scholarrs199476389
googlers199476389
pharmgkbrs199476389
gwascentralrs199476389
openSNPrs199476389
23andMers199476389
23andMe allrs199476389
SNP Nexus

SNPshotrs199476389
SNPdbers199476389
MSV3drs199476389
GWAS Ctlgrs199476389
Max Magnitude0
ClinVar
Risk rs199476389(C;C)
Alt rs199476389(C;C)
Reference rs199476389(T;T)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064662A>G
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000058988.3, RCV000150059.3,