rs2071046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2071046(C;C) |
Make rs2071046(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42537595 |
Gene | NAGLU |
is a | snp |
is | mentioned by |
dbSNP | rs2071046 |
dbSNP (classic) | rs2071046 |
ClinGen | rs2071046 |
ebi | rs2071046 |
HLI | rs2071046 |
Exac | rs2071046 |
Gnomad | rs2071046 |
Varsome | rs2071046 |
LitVar | rs2071046 |
Map | rs2071046 |
PheGenI | rs2071046 |
Biobank | rs2071046 |
1000 genomes | rs2071046 |
hgdp | rs2071046 |
ensembl | rs2071046 |
geneview | rs2071046 |
scholar | rs2071046 |
rs2071046 | |
pharmgkb | rs2071046 |
gwascentral | rs2071046 |
openSNP | rs2071046 |
23andMe | rs2071046 |
SNPshot | rs2071046 |
SNPdbe | rs2071046 |
MSV3d | rs2071046 |
GWAS Ctlg | rs2071046 |
GMAF | 0.2493 |
Max Magnitude | 0 |
? | (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, |