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rs138504221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138504221(A;G)
Make rs138504221(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position80212128
GeneSGSH
is asnp
is mentioned by
dbSNPrs138504221
ebirs138504221
HLIrs138504221
Exacrs138504221
Varsomers138504221
Maprs138504221
PheGenIrs138504221
hapmaprs138504221
1000 genomesrs138504221
hgdprs138504221
ensemblrs138504221
gopubmedrs138504221
geneviewrs138504221
scholarrs138504221
googlers138504221
pharmgkbrs138504221
gwascentralrs138504221
openSNPrs138504221
23andMers138504221
23andMe allrs138504221
SNP Nexus

SNPshotrs138504221
SNPdbers138504221
MSV3drs138504221
GWAS Ctlgrs138504221
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs138504221(G;G)
Alt rs138504221(G;G)
Reference rs138504221(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A not provided
Reversed 0
HGVS NC_000017.10:g.78185927A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023412.4, RCV000078357.3,