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rs118203939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203939(C;C)
Make rs118203939(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78969156
GeneARSB
is asnp
is mentioned by
dbSNPrs118203939
ebirs118203939
HLIrs118203939
Exacrs118203939
Varsomers118203939
Maprs118203939
PheGenIrs118203939
hapmaprs118203939
1000 genomesrs118203939
hgdprs118203939
ensemblrs118203939
gopubmedrs118203939
geneviewrs118203939
scholarrs118203939
googlers118203939
pharmgkbrs118203939
gwascentralrs118203939
openSNPrs118203939
23andMers118203939
23andMe allrs118203939
SNP Nexus

SNPshotrs118203939
SNPdbers118203939
MSV3drs118203939
GWAS Ctlgrs118203939
Max Magnitude0
OMIM611542
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203939(C;C)
Alt rs118203939(C;C)
Reference rs118203939(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis, type vi, severe
Reversed 1
HGVS NC_000005.9:g.78264979A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000926.4,