rs267606980
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs267606980(G;G) |
Make rs267606980(G;T) |
Make rs267606980(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 4699600 |
Gene | PRNP |
is a | snp |
is | mentioned by |
dbSNP | rs267606980 |
dbSNP (classic) | rs267606980 |
ClinGen | rs267606980 |
ebi | rs267606980 |
HLI | rs267606980 |
Exac | rs267606980 |
Gnomad | rs267606980 |
Varsome | rs267606980 |
LitVar | rs267606980 |
Map | rs267606980 |
PheGenI | rs267606980 |
Biobank | rs267606980 |
1000 genomes | rs267606980 |
hgdp | rs267606980 |
ensembl | rs267606980 |
geneview | rs267606980 |
scholar | rs267606980 |
rs267606980 | |
pharmgkb | rs267606980 |
gwascentral | rs267606980 |
openSNP | rs267606980 |
23andMe | rs267606980 |
SNPshot | rs267606980 |
SNPdbe | rs267606980 |
MSV3d | rs267606980 |
GWAS Ctlg | rs267606980 |
Max Magnitude | 0 |
*rs267606980, G127V appears to protect against kuru [PMID 19923577]
ClinVar | |
---|---|
Risk | rs267606980(T;T) |
Alt | rs267606980(T;T) |
Reference | rs267606980(G;G) |
Significance | Other |
Disease | Kuru |
Variation | info |
Gene | PRNP |
CLNDBN | Kuru, protection against |
Reversed | 0 |
HGVS | NC_000020.10:g.4680246G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014358.5, |