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rs1057518644

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518644(C;T)
Make rs1057518644(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position43192413
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs1057518644
dbSNP (old)rs1057518644
ClinGenrs1057518644
ebirs1057518644
HLIrs1057518644
Exacrs1057518644
Gnomadrs1057518644
Varsomers1057518644
Maprs1057518644
PheGenIrs1057518644
Biobankrs1057518644
1000 genomesrs1057518644
hgdprs1057518644
ensemblrs1057518644
gopubmedrs1057518644
geneviewrs1057518644
scholarrs1057518644
googlers1057518644
pharmgkbrs1057518644
gwascentralrs1057518644
openSNPrs1057518644
23andMers1057518644
23andMe allrs1057518644
SNPshotrs1057518644
SNPdbers1057518644
MSV3drs1057518644
GWAS Ctlgrs1057518644
Max Magnitude0
ClinVar
Risk rs1057518644(T;T)
Alt rs1057518644(T;T)
Reference Rs1057518644(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43047556C>T
CLNSRC
CLNACC RCV000415469.1,