rs121913078
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913078(C;T) |
Make rs121913078(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 89008915 |
Gene | FAS |
is a | snp |
is | mentioned by |
dbSNP | rs121913078 |
dbSNP (classic) | rs121913078 |
ClinGen | rs121913078 |
ebi | rs121913078 |
HLI | rs121913078 |
Exac | rs121913078 |
Gnomad | rs121913078 |
Varsome | rs121913078 |
LitVar | rs121913078 |
Map | rs121913078 |
PheGenI | rs121913078 |
Biobank | rs121913078 |
1000 genomes | rs121913078 |
hgdp | rs121913078 |
ensembl | rs121913078 |
geneview | rs121913078 |
scholar | rs121913078 |
rs121913078 | |
pharmgkb | rs121913078 |
gwascentral | rs121913078 |
openSNP | rs121913078 |
23andMe | rs121913078 |
SNPshot | rs121913078 |
SNPdbe | rs121913078 |
MSV3d | rs121913078 |
GWAS Ctlg | rs121913078 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913078(T;T) |
Alt | rs121913078(T;T) |
Reference | Rs121913078(C;C) |
Significance | Pathogenic |
Disease | Autoimmune lymphoproliferative syndrome |
Variation | info |
Gene | FAS |
CLNDBN | Autoimmune lymphoproliferative syndrome, type 1a |
Reversed | 0 |
HGVS | NC_000010.10:g.90768672C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017966.29, |