Rs118203944

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203944(A;C)
Make rs118203944(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position78839391
GeneARSB
is asnp
is mentioned by
dbSNPrs118203944
Exacrs118203944
PheGenIrs118203944
nextbiors118203944
hapmaprs118203944
1000 genomesrs118203944
hgdprs118203944
ensemblrs118203944
gopubmedrs118203944
geneviewrs118203944
scholarrs118203944
googlers118203944
pharmgkbrs118203944
gwascentralrs118203944
openSNPrs118203944
23andMers118203944
23andMe allrs118203944
SNP Nexus

SNPshotrs118203944
SNPdbers118203944
MSV3drs118203944
OMIM611542
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118203944(C;C)
Alt rs118203944(C;C)
Reference rs118203944(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis type VI
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis type VI
Reversed 1
HGVS NC_000005.9:g.78135214T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000934.2,