rs74315415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 7 | Gerstmann–Straussler–Scheinker syndrome |
Make rs74315415(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 4699618 |
Gene | PRNP |
is a | snp |
is | mentioned by |
dbSNP | rs74315415 |
dbSNP (classic) | rs74315415 |
ClinGen | rs74315415 |
ebi | rs74315415 |
HLI | rs74315415 |
Exac | rs74315415 |
Gnomad | rs74315415 |
Varsome | rs74315415 |
LitVar | rs74315415 |
Map | rs74315415 |
PheGenI | rs74315415 |
Biobank | rs74315415 |
1000 genomes | rs74315415 |
hgdp | rs74315415 |
ensembl | rs74315415 |
geneview | rs74315415 |
scholar | rs74315415 |
rs74315415 | |
pharmgkb | rs74315415 |
gwascentral | rs74315415 |
openSNP | rs74315415 |
23andMe | rs74315415 |
SNPshot | rs74315415 |
SNPdbe | rs74315415 |
MSV3d | rs74315415 |
GWAS Ctlg | rs74315415 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs74315415(T;T) |
Alt | rs74315415(T;T) |
Reference | Rs74315415(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.4680264C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014356.24, |