Have questions? Visit https://www.reddit.com/r/SNPedia

rs2071046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2071046(C;C)
Make rs2071046(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42537595
GeneNAGLU
is asnp
is mentioned by
dbSNPrs2071046
dbSNP (classic)rs2071046
ClinGenrs2071046
ebirs2071046
HLIrs2071046
Exacrs2071046
Gnomadrs2071046
Varsomers2071046
LitVarrs2071046
Maprs2071046
PheGenIrs2071046
Biobankrs2071046
1000 genomesrs2071046
hgdprs2071046
ensemblrs2071046
geneviewrs2071046
scholarrs2071046
googlers2071046
pharmgkbrs2071046
gwascentralrs2071046
openSNPrs2071046
23andMers2071046
SNPshotrs2071046
SNPdbers2071046
MSV3drs2071046
GWAS Ctlgrs2071046
GMAF0.2493
Max Magnitude0
? (C;C) (C;G) (G;G) 28


[PMID 22102531] Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

ClinVar
Risk rs2071046(A;A) rs2071046(C;C)
Alt rs2071046(A;A) rs2071046(C;C)
Reference Rs2071046(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NAGLU
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.40689613G>C
CLNSRC
CLNACC RCV000175569.2,