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rs587779400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779400(C;T)
Make rs587779400(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position65979778
GeneGUSB
is asnp
is mentioned by
dbSNPrs587779400
dbSNP (classic)rs587779400
ClinGenrs587779400
ebirs587779400
HLIrs587779400
Exacrs587779400
Gnomadrs587779400
Varsomers587779400
LitVarrs587779400
Maprs587779400
PheGenIrs587779400
Biobankrs587779400
1000 genomesrs587779400
hgdprs587779400
ensemblrs587779400
geneviewrs587779400
scholarrs587779400
googlers587779400
pharmgkbrs587779400
gwascentralrs587779400
openSNPrs587779400
23andMers587779400
SNPshotrs587779400
SNPdbers587779400
MSV3drs587779400
GWAS Ctlgrs587779400
Max Magnitude0
ClinVar
Risk rs587779400(T;T)
Alt rs587779400(T;T)
Reference Rs587779400(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 1
HGVS NC_000007.13:g.65444765G>A
CLNSRC
CLNACC RCV000087087.1,