Rs118204435

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204435(C;G)
Make rs118204435(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88836222
GeneGALNS
is asnp
is mentioned by
dbSNPrs118204435
PheGenIrs118204435
nextbiors118204435
hapmaprs118204435
1000 genomesrs118204435
hgdprs118204435
ensemblrs118204435
gopubmedrs118204435
geneviewrs118204435
scholarrs118204435
googlers118204435
pharmgkbrs118204435
gwascentralrs118204435
openSNPrs118204435
23andMers118204435
23andMe allrs118204435
SNP Nexus

SNPshotrs118204435
SNPdbers118204435
MSV3drs118204435
Max Magnitude0
OMIM612222
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204435(G;G)
Alt rs118204435(G;G)
Reference rs118204435(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88902630G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000733.1,