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rs786205899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
Make rs786205899(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position88837646
GeneGALNS
is asnp
is mentioned by
dbSNPrs786205899
dbSNP (classic)rs786205899
ClinGenrs786205899
ebirs786205899
HLIrs786205899
Exacrs786205899
Gnomadrs786205899
Varsomers786205899
LitVarrs786205899
Maprs786205899
PheGenIrs786205899
Biobankrs786205899
1000 genomesrs786205899
hgdprs786205899
ensemblrs786205899
geneviewrs786205899
scholarrs786205899
googlers786205899
pharmgkbrs786205899
gwascentralrs786205899
openSNPrs786205899
23andMers786205899
SNPshotrs786205899
SNPdbers786205899
MSV3drs786205899
GWAS Ctlgrs786205899
Max Magnitude3
ClinVar
Risk rs786205899(G;G)
Alt rs786205899(G;G)
Reference Rs786205899(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GALNS
CLNDBN Mucopolysaccharidosis, MPS-IV-A
Reversed 1
HGVS NC_000016.9:g.88904054T>C
CLNSRC
CLNACC RCV000172874.2,