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rs1085307112

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome8
Position43173728
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs1085307112
dbSNP (old)rs1085307112
ClinGenrs1085307112
ebirs1085307112
HLIrs1085307112
Exacrs1085307112
Gnomadrs1085307112
Varsomers1085307112
Maprs1085307112
PheGenIrs1085307112
Biobankrs1085307112
1000 genomesrs1085307112
hgdprs1085307112
ensemblrs1085307112
gopubmedrs1085307112
geneviewrs1085307112
scholarrs1085307112
googlers1085307112
pharmgkbrs1085307112
gwascentralrs1085307112
openSNPrs1085307112
23andMers1085307112
23andMe allrs1085307112
SNPshotrs1085307112
SNPdbers1085307112
MSV3drs1085307112
GWAS Ctlgrs1085307112
Max Magnitude0
ClinVar
Risk rs1085307112(C;C)
Alt rs1085307112(C;C)
Reference Rs1085307112(A;A)
Significance Probable-Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene HGSNAT
CLNDBN Mucopolysaccharidosis, MPS-III-C
Reversed 0
HGVS NC_000008.10:g.43028871A>C
CLNSRC
CLNACC RCV000488421.1,