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rs794729202

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794729202(A;A)
Make rs794729202(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position88856831
GeneGALNS, LOC105371408, TRAPPC2L
is asnp
is mentioned by
dbSNPrs794729202
ebirs794729202
HLIrs794729202
Exacrs794729202
Varsomers794729202
Maprs794729202
PheGenIrs794729202
hapmaprs794729202
1000 genomesrs794729202
hgdprs794729202
ensemblrs794729202
gopubmedrs794729202
geneviewrs794729202
scholarrs794729202
googlers794729202
pharmgkbrs794729202
gwascentralrs794729202
openSNPrs794729202
23andMers794729202
23andMe allrs794729202
SNP Nexus

SNPshotrs794729202
SNPdbers794729202
MSV3drs794729202
GWAS Ctlgrs794729202
Max Magnitude0
ClinVar
Risk rs794729202(A;A)
Alt rs794729202(A;A)
Reference rs794729202(T;T)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS TRAPPC2L
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88923239A>T
CLNSRC
CLNACC RCV000184021.1,