rs17860424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs17860424(C;T) |
Make rs17860424(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 201276908 |
Gene | CASP8 |
is a | snp |
is | mentioned by |
dbSNP | rs17860424 |
dbSNP (classic) | rs17860424 |
ClinGen | rs17860424 |
ebi | rs17860424 |
HLI | rs17860424 |
Exac | rs17860424 |
Gnomad | rs17860424 |
Varsome | rs17860424 |
LitVar | rs17860424 |
Map | rs17860424 |
PheGenI | rs17860424 |
Biobank | rs17860424 |
1000 genomes | rs17860424 |
hgdp | rs17860424 |
ensembl | rs17860424 |
geneview | rs17860424 |
scholar | rs17860424 |
rs17860424 | |
pharmgkb | rs17860424 |
gwascentral | rs17860424 |
openSNP | rs17860424 |
23andMe | rs17860424 |
SNPshot | rs17860424 |
SNPdbe | rs17860424 |
MSV3d | rs17860424 |
GWAS Ctlg | rs17860424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs17860424(T;T) |
Alt | rs17860424(T;T) |
Reference | Rs17860424(C;C) |
Significance | Pathogenic |
Disease | Caspase-8 deficiency |
Variation | info |
Gene | CASP8 |
CLNDBN | Caspase-8 deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.202141631C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008201.4, |