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rs7503034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs7503034(C;T)
Make rs7503034(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80210594
GeneSGSH
is asnp
is mentioned by
dbSNPrs7503034
ebirs7503034
HLIrs7503034
Exacrs7503034
Varsomers7503034
Maprs7503034
PheGenIrs7503034
hapmaprs7503034
1000 genomesrs7503034
hgdprs7503034
ensemblrs7503034
gopubmedrs7503034
geneviewrs7503034
scholarrs7503034
googlers7503034
pharmgkbrs7503034
gwascentralrs7503034
openSNPrs7503034
23andMers7503034
23andMe allrs7503034
SNP Nexus

SNPshotrs7503034
SNPdbers7503034
MSV3drs7503034
GWAS Ctlgrs7503034
GMAF0.3264
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SGSH
allele T
frequency 0.225
sift TOLERATED
HuRef 1103645391253
Disease Association Defects in SGSH are the cause of mucopolysaccharidosis type IIIA (MPS-IIIA) (MIM:252900); also known as Sanfilippo syndrome A. MPS-IIIA is an autosomal recessive disorder whose clinical features are severe mental defect (progressive dementia, delayed speech, sleep disturbances and aggressive behaviour) with relatively mild somatic features. It affects 1 in 24000 individuals (estimated in the netherlands and united kingdom), with considerable variation in severity of clinical phenotype. Particularly high incidence and severity of the disease are found in the cayman islands.



GET Evidence
SGSH-R456H
aa_change Arg456His
aa_change_short R456H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.293177
summary



ClinVar
Risk rs7503034(T;T)
Alt rs7503034(T;T)
Reference rs7503034(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SGSH
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.78184393C>T
CLNSRC ClinVar Emory University
CLNACC RCV000078352.4,