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rs199476349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476349(A;A)
Make rs199476349(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50626250
GeneARSA
is asnp
is mentioned by
dbSNPrs199476349
ebirs199476349
HLIrs199476349
Exacrs199476349
Varsomers199476349
Maprs199476349
PheGenIrs199476349
hapmaprs199476349
1000 genomesrs199476349
hgdprs199476349
ensemblrs199476349
gopubmedrs199476349
geneviewrs199476349
scholarrs199476349
googlers199476349
pharmgkbrs199476349
gwascentralrs199476349
openSNPrs199476349
23andMers199476349
23andMe allrs199476349
SNP Nexus

SNPshotrs199476349
SNPdbers199476349
MSV3drs199476349
GWAS Ctlgrs199476349
Max Magnitude0
ClinVar
Risk rs199476349(A;A)
Alt rs199476349(A;A)
Reference rs199476349(G;G)
Significance Pathogenic
Disease not provided Metachromatic leukodystrophy
Variation info
Gene ARSA
CLNDBN not provided Metachromatic leukodystrophy
Reversed 1
HGVS NC_000022.10:g.51064678C>T
CLNSRC HGMD UniProtKB (variants)
CLNACC RCV000058985.3, RCV000150060.3,