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rs794726887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGCTC;CTGCTC) 0 common in clinvar
Make rs794726887(-;-)
Make rs794726887(-;CTGCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position88856767
GeneGALNS, LOC107983950, TRAPPC2L
is asnp
is mentioned by
dbSNPrs794726887
dbSNP (old)rs794726887
ClinGenrs794726887
ebirs794726887
HLIrs794726887
Exacrs794726887
Varsomers794726887
Maprs794726887
PheGenIrs794726887
Biobankrs794726887
1000 genomesrs794726887
hgdprs794726887
ensemblrs794726887
gopubmedrs794726887
geneviewrs794726887
scholarrs794726887
googlers794726887
pharmgkbrs794726887
gwascentralrs794726887
openSNPrs794726887
23andMers794726887
23andMe allrs794726887
SNP Nexus

SNPshotrs794726887
SNPdbers794726887
MSV3drs794726887
GWAS Ctlgrs794726887
Max Magnitude0
ClinVar
Risk rs794726887(-;-)
Alt rs794726887(-;-)
Reference Rs794726887(CTGCTC;CTGCTC)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS TRAPPC2L
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88923175_88923180delGAGCAG
CLNSRC
CLNACC RCV000173142.1,