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rs118203944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203944(A;C)
Make rs118203944(C;C)
ReferenceGRCh38 38.1/142
Chromosome5
Position78839391
GeneARSB
is asnp
is mentioned by
dbSNPrs118203944
dbSNP (classic)rs118203944
ClinGenrs118203944
ebirs118203944
HLIrs118203944
Exacrs118203944
Gnomadrs118203944
Varsomers118203944
LitVarrs118203944
Maprs118203944
PheGenIrs118203944
Biobankrs118203944
1000 genomesrs118203944
hgdprs118203944
ensemblrs118203944
geneviewrs118203944
scholarrs118203944
googlers118203944
pharmgkbrs118203944
gwascentralrs118203944
openSNPrs118203944
23andMers118203944
SNPshotrs118203944
SNPdbers118203944
MSV3drs118203944
GWAS Ctlgrs118203944
Max Magnitude0
OMIM611542
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118203944(C;C)
Alt rs118203944(C;C)
Reference Rs118203944(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis type VI not provided
Variation info
Gene ARSB
CLNDBN Mucopolysaccharidosis type VI not provided
Reversed 1
HGVS NC_000005.9:g.78135214T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000934.5, RCV000424623.1,