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rs1065757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1065757(A;A)
Make rs1065757(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position78885654
GeneARSB
is asnp
is mentioned by
dbSNPrs1065757
dbSNP (old)rs1065757
ClinGenrs1065757
ebirs1065757
HLIrs1065757
Exacrs1065757
Gnomadrs1065757
Varsomers1065757
Maprs1065757
PheGenIrs1065757
Biobankrs1065757
1000 genomesrs1065757
hgdprs1065757
ensemblrs1065757
gopubmedrs1065757
geneviewrs1065757
scholarrs1065757
googlers1065757
pharmgkbrs1065757
gwascentralrs1065757
openSNPrs1065757
23andMers1065757
23andMe allrs1065757
SNPshotrs1065757
SNPdbers1065757
MSV3drs1065757
GWAS Ctlgrs1065757
GMAF0.3398
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs1065757(A;A) rs1065757(C;C) rs1065757(T;T)
Alt rs1065757(A;A) rs1065757(C;C) rs1065757(T;T)
Reference Rs1065757(G;G)
Significance Non-pathogenic
Disease not specified Mucopolysaccharidosis type VI
Variation info
Gene ARSB
CLNDBN not specified Mucopolysaccharidosis type VI
Reversed 1
HGVS NC_000005.9:g.78181477C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000077997.5, RCV000352809.1,