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rs118203938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203938(G;T)
Make rs118203938(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78969095
GeneARSB
is asnp
is mentioned by
dbSNPrs118203938
dbSNP (classic)rs118203938
ClinGenrs118203938
ebirs118203938
HLIrs118203938
Exacrs118203938
Gnomadrs118203938
Varsomers118203938
LitVarrs118203938
Maprs118203938
PheGenIrs118203938
Biobankrs118203938
1000 genomesrs118203938
hgdprs118203938
ensemblrs118203938
geneviewrs118203938
scholarrs118203938
googlers118203938
pharmgkbrs118203938
gwascentralrs118203938
openSNPrs118203938
23andMers118203938
SNPshotrs118203938
SNPdbers118203938
MSV3drs118203938
GWAS Ctlgrs118203938
Max Magnitude0
OMIM611542
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203938(A;A) rs118203938(T;T)
Alt rs118203938(A;A) rs118203938(T;T)
Reference Rs118203938(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis, type vi, intermediate
Reversed 1
HGVS NC_000005.9:g.78264918C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000925.4,