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rs201101343

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201101343(C;C)
Make rs201101343(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position78780549
GeneARSB
is asnp
is mentioned by
dbSNPrs201101343
ebirs201101343
HLIrs201101343
Exacrs201101343
Varsomers201101343
Maprs201101343
PheGenIrs201101343
hapmaprs201101343
1000 genomesrs201101343
hgdprs201101343
ensemblrs201101343
gopubmedrs201101343
geneviewrs201101343
scholarrs201101343
googlers201101343
pharmgkbrs201101343
gwascentralrs201101343
openSNPrs201101343
23andMers201101343
23andMe allrs201101343
SNP Nexus

SNPshotrs201101343
SNPdbers201101343
MSV3drs201101343
GWAS Ctlgrs201101343
Max Magnitude0
ClinVar
Risk rs201101343(C;C)
Alt rs201101343(C;C)
Reference rs201101343(T;T)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis type VI
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis type VI
Reversed 0
HGVS NC_000005.9:g.78076372T>C
CLNSRC
CLNACC RCV000169649.1,