rs398122370
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122370(C;C) |
Make rs398122370(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 4699851 |
Gene | PRNP |
is a | snp |
is | mentioned by |
dbSNP | rs398122370 |
dbSNP (classic) | rs398122370 |
ClinGen | rs398122370 |
ebi | rs398122370 |
HLI | rs398122370 |
Exac | rs398122370 |
Gnomad | rs398122370 |
Varsome | rs398122370 |
LitVar | rs398122370 |
Map | rs398122370 |
PheGenI | rs398122370 |
Biobank | rs398122370 |
1000 genomes | rs398122370 |
hgdp | rs398122370 |
ensembl | rs398122370 |
geneview | rs398122370 |
scholar | rs398122370 |
rs398122370 | |
pharmgkb | rs398122370 |
gwascentral | rs398122370 |
openSNP | rs398122370 |
23andMe | rs398122370 |
SNPshot | rs398122370 |
SNPdbe | rs398122370 |
MSV3d | rs398122370 |
GWAS Ctlg | rs398122370 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122370(C;C) |
Alt | rs398122370(C;C) |
Reference | Rs398122370(G;G) |
Significance | Pathogenic |
Disease | Jakob-Creutzfeldt disease |
Variation | info |
Gene | PRNP |
CLNDBN | Jakob-Creutzfeldt disease |
Reversed | 0 |
HGVS | NC_000020.10:g.4680497G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074468.15, |