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rs199476391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476391(A;A)
Make rs199476391(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625614
GeneARSA
is asnp
is mentioned by
dbSNPrs199476391
ebirs199476391
HLIrs199476391
Exacrs199476391
Varsomers199476391
Maprs199476391
PheGenIrs199476391
hapmaprs199476391
1000 genomesrs199476391
hgdprs199476391
ensemblrs199476391
gopubmedrs199476391
geneviewrs199476391
scholarrs199476391
googlers199476391
pharmgkbrs199476391
gwascentralrs199476391
openSNPrs199476391
23andMers199476391
23andMe allrs199476391
SNP Nexus

SNPshotrs199476391
SNPdbers199476391
MSV3drs199476391
GWAS Ctlgrs199476391
Max Magnitude0
ClinVar
Risk rs199476391(A,T;A,T)
Alt rs199476391(A,T;A,T)
Reference rs199476391(G;G)
Significance Probable-Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064042C>T
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000058946.3, RCV000150058.3,