rs776245016
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs776245016(A;A) |
Make rs776245016(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 5558520 |
Gene | NLRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs776245016 |
dbSNP (classic) | rs776245016 |
ClinGen | rs776245016 |
ebi | rs776245016 |
HLI | rs776245016 |
Exac | rs776245016 |
Gnomad | rs776245016 |
Varsome | rs776245016 |
LitVar | rs776245016 |
Map | rs776245016 |
PheGenI | rs776245016 |
Biobank | rs776245016 |
1000 genomes | rs776245016 |
hgdp | rs776245016 |
ensembl | rs776245016 |
geneview | rs776245016 |
scholar | rs776245016 |
rs776245016 | |
pharmgkb | rs776245016 |
gwascentral | rs776245016 |
openSNP | rs776245016 |
23andMe | rs776245016 |
SNPshot | rs776245016 |
SNPdbe | rs776245016 |
MSV3d | rs776245016 |
GWAS Ctlg | rs776245016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776245016(A;A) |
Alt | rs776245016(A;A) |
Reference | Rs776245016(G;G) |
Significance | Pathogenic |
Disease | Autoinflammation with arthritis and dyskeratosis |
Variation | info |
Gene | NLRP1 |
CLNDBN | Autoinflammation with arthritis and dyskeratosis |
Reversed | 0 |
HGVS | NC_000017.10:g.5461840G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000445355.1, |