rs398122413
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 7 | Gerstmann–Straussler–Scheinker syndrome |
(G;G) | 0 | common in clinvar |
Make rs398122413(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 4699853 |
Gene | PRNP |
is a | snp |
is | mentioned by |
dbSNP | rs398122413 |
dbSNP (classic) | rs398122413 |
ClinGen | rs398122413 |
ebi | rs398122413 |
HLI | rs398122413 |
Exac | rs398122413 |
Gnomad | rs398122413 |
Varsome | rs398122413 |
LitVar | rs398122413 |
Map | rs398122413 |
PheGenI | rs398122413 |
Biobank | rs398122413 |
1000 genomes | rs398122413 |
hgdp | rs398122413 |
ensembl | rs398122413 |
geneview | rs398122413 |
scholar | rs398122413 |
rs398122413 | |
pharmgkb | rs398122413 |
gwascentral | rs398122413 |
openSNP | rs398122413 |
23andMe | rs398122413 |
SNPshot | rs398122413 |
SNPdbe | rs398122413 |
MSV3d | rs398122413 |
GWAS Ctlg | rs398122413 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs398122413(C;C) |
Alt | rs398122413(C;C) |
Reference | Rs398122413(G;G) |
Significance | Pathogenic |
Disease | Gerstmann-Straussler-Scheinker syndrome |
Variation | info |
Gene | PRNP |
CLNDBN | Gerstmann-Straussler-Scheinker syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.4680499G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074467.15, |