rs17852079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Gerstmann–Straussler–Scheinker syndrome |
Make rs17852079(A;A) |
Make rs17852079(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 4699899 |
Gene | PRNP |
is a | snp |
is | mentioned by |
dbSNP | rs17852079 |
dbSNP (classic) | rs17852079 |
ClinGen | rs17852079 |
ebi | rs17852079 |
HLI | rs17852079 |
Exac | rs17852079 |
Gnomad | rs17852079 |
Varsome | rs17852079 |
LitVar | rs17852079 |
Map | rs17852079 |
PheGenI | rs17852079 |
Biobank | rs17852079 |
1000 genomes | rs17852079 |
hgdp | rs17852079 |
ensembl | rs17852079 |
geneview | rs17852079 |
scholar | rs17852079 |
rs17852079 | |
pharmgkb | rs17852079 |
gwascentral | rs17852079 |
openSNP | rs17852079 |
23andMe | rs17852079 |
SNPshot | rs17852079 |
SNPdbe | rs17852079 |
MSV3d | rs17852079 |
GWAS Ctlg | rs17852079 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs17852079(A;A) rs17852079(T;T) |
Alt | rs17852079(A;A) rs17852079(T;T) |
Reference | Rs17852079(C;C) |
Significance | Pathogenic |
Disease | Gerstmann-Straussler-Scheinker syndrome |
Variation | info |
Gene | PRNP |
CLNDBN | Gerstmann-Straussler-Scheinker syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.4680545C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074472.17, |