rs80358237
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80358237(A;A) |
Make rs80358237(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 172665910 |
Gene | FASLG |
is a | snp |
is | mentioned by |
dbSNP | rs80358237 |
dbSNP (classic) | rs80358237 |
ClinGen | rs80358237 |
ebi | rs80358237 |
HLI | rs80358237 |
Exac | rs80358237 |
Gnomad | rs80358237 |
Varsome | rs80358237 |
LitVar | rs80358237 |
Map | rs80358237 |
PheGenI | rs80358237 |
Biobank | rs80358237 |
1000 genomes | rs80358237 |
hgdp | rs80358237 |
ensembl | rs80358237 |
geneview | rs80358237 |
scholar | rs80358237 |
rs80358237 | |
pharmgkb | rs80358237 |
gwascentral | rs80358237 |
openSNP | rs80358237 |
23andMe | rs80358237 |
SNPshot | rs80358237 |
SNPdbe | rs80358237 |
MSV3d | rs80358237 |
GWAS Ctlg | rs80358237 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358237(A;A) |
Alt | rs80358237(A;A) |
Reference | Rs80358237(C;C) |
Significance | Pathogenic |
Disease | Autoimmune lymphoproliferative syndrome |
Variation | info |
Gene | FASLG |
CLNDBN | Autoimmune lymphoproliferative syndrome |
Reversed | 0 |
HGVS | NC_000001.11:g.172665910C>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020371.2, |
[PMID 16627752] A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.