Rs118204442

From SNPedia
Jump to: navigation, search

Orientationminus
is asnp
is mentioned by
dbSNPrs118204442
PheGenIrs118204442
nextbiors118204442
hapmaprs118204442
1000 genomesrs118204442
hgdprs118204442
ensemblrs118204442
gopubmedrs118204442
geneviewrs118204442
scholarrs118204442
googlers118204442
pharmgkbrs118204442
gwascentralrs118204442
openSNPrs118204442
23andMers118204442
23andMe allrs118204442
SNP Nexus

SNPshotrs118204442
SNPdbers118204442
MSV3drs118204442
GeneGALNS
Chromosome16
Orientationminus
Position88901743
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204442(A;A)
Make rs118204442(A;G)
OMIM612222
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204442(A;A)
Alt rs118204442(A;A)
Reference rs118204442(G;G)
Significance 5
Disease Mucopolysaccharidosis
ClinVar info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
CLNHGVS NC_000016.9:g.88901743C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000741.1