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rs9530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs9530(C;C)
Make rs9530(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position65960907
GeneGUSB
is asnp
is mentioned by
dbSNPrs9530
ebirs9530
HLIrs9530
Exacrs9530
Varsomers9530
Maprs9530
PheGenIrs9530
hapmaprs9530
1000 genomesrs9530
hgdprs9530
ensemblrs9530
gopubmedrs9530
geneviewrs9530
scholarrs9530
googlers9530
pharmgkbrs9530
gwascentralrs9530
openSNPrs9530
23andMers9530
23andMe allrs9530
SNP Nexus

SNPshotrs9530
SNPdbers9530
MSV3drs9530
GWAS Ctlgrs9530
GMAF0.4183
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene GUSB
allele G
frequency 0.467
sift TOLERATED
HuRef 1103652596568
Disease Association Defects in GUSB are the cause of mucopolysaccharidosis type VII (MPS-VII) (MIM:253220); also known as Sly syndrome. This is an autosomal recessive disorder characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features.



GET Evidence
GUSB-L649P
aa_change Leu649Pro
aa_change_short L649P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.484756
summary



ClinVar
Risk rs9530(C;C)
Alt rs9530(C;C)
Reference rs9530(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GUSB
CLNDBN not specified
Reversed 1
HGVS NC_000007.13:g.65425894A>G
CLNSRC ClinVar Emory University
CLNACC RCV000078327.4,