Rs118203940

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203940(C;C)
Make rs118203940(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position78955486
GeneARSB
is asnp
is mentioned by
dbSNPrs118203940
Exacrs118203940
PheGenIrs118203940
nextbiors118203940
hapmaprs118203940
1000 genomesrs118203940
hgdprs118203940
ensemblrs118203940
gopubmedrs118203940
geneviewrs118203940
scholarrs118203940
googlers118203940
pharmgkbrs118203940
gwascentralrs118203940
openSNPrs118203940
23andMers118203940
23andMe allrs118203940
SNP Nexus

SNPshotrs118203940
SNPdbers118203940
MSV3drs118203940
OMIM611542
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203940(C;C)
Alt rs118203940(C;C)
Reference rs118203940(T;T)
Significance Pathogenic
Disease MUCOPOLYSACCHARIDOSIS
Variation info
Gene ARSB
CLNDBN MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD
Reversed 1
HGVS NC_000005.9:g.78251309A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000927.2,