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rs199476382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476382(A;A)
Make rs199476382(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50626195
GeneARSA
is asnp
is mentioned by
dbSNPrs199476382
dbSNP (classic)rs199476382
ClinGenrs199476382
ebirs199476382
HLIrs199476382
Exacrs199476382
Gnomadrs199476382
Varsomers199476382
LitVarrs199476382
Maprs199476382
PheGenIrs199476382
Biobankrs199476382
1000 genomesrs199476382
hgdprs199476382
ensemblrs199476382
geneviewrs199476382
scholarrs199476382
googlers199476382
pharmgkbrs199476382
gwascentralrs199476382
openSNPrs199476382
23andMers199476382
SNPshotrs199476382
SNPdbers199476382
MSV3drs199476382
GWAS Ctlgrs199476382
Max Magnitude0
ClinVar
Risk rs199476382(A;A)
Alt rs199476382(A;A)
Reference Rs199476382(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ARSA
CLNDBN not provided
Reversed 1
HGVS NC_000022.10:g.51064623C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000058997.2,