Rs118203941

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203941(A;A)
Make rs118203941(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position78781974
GeneARSB
is asnp
is mentioned by
dbSNPrs118203941
PheGenIrs118203941
nextbiors118203941
hapmaprs118203941
1000 genomesrs118203941
hgdprs118203941
ensemblrs118203941
gopubmedrs118203941
geneviewrs118203941
scholarrs118203941
googlers118203941
pharmgkbrs118203941
gwascentralrs118203941
openSNPrs118203941
23andMers118203941
23andMe allrs118203941
SNP Nexus

SNPshotrs118203941
SNPdbers118203941
MSV3drs118203941
Max Magnitude0
OMIM611542
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203941(A;A)
Alt rs118203941(A;A)
Reference rs118203941(G;G)
Significance Pathogenic
Disease MUCOPOLYSACCHARIDOSIS
Variation info
Gene ARSB
CLNDBN MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE
Reversed 1
HGVS NC_000005.9:g.78077797C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000928.2,