rs80358236
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs80358236(-;-) |
Make rs80358236(-;ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 172665642 |
Gene | FASLG |
is a | snp |
is | mentioned by |
dbSNP | rs80358236 |
dbSNP (classic) | rs80358236 |
ClinGen | rs80358236 |
ebi | rs80358236 |
HLI | rs80358236 |
Exac | rs80358236 |
Gnomad | rs80358236 |
Varsome | rs80358236 |
LitVar | rs80358236 |
Map | rs80358236 |
PheGenI | rs80358236 |
Biobank | rs80358236 |
1000 genomes | rs80358236 |
hgdp | rs80358236 |
ensembl | rs80358236 |
geneview | rs80358236 |
scholar | rs80358236 |
rs80358236 | |
pharmgkb | rs80358236 |
gwascentral | rs80358236 |
openSNP | rs80358236 |
23andMe | rs80358236 |
SNPshot | rs80358236 |
SNPdbe | rs80358236 |
MSV3d | rs80358236 |
GWAS Ctlg | rs80358236 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358236(-;-) |
Alt | rs80358236(-;-) |
Reference | Rs80358236(ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA;ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA) |
Significance | Pathogenic |
Disease | Autoimmune lymphoproliferative syndrome |
Variation | info |
Gene | FASLG |
CLNDBN | Autoimmune lymphoproliferative syndrome, type 1b |
Reversed | 0 |
HGVS | NC_000001.10:g.172634782_172634865del84 |
CLNSRC | OMIM Allelic Variant dbVar |
CLNACC | RCV000017959.28, |
[PMID 8787672] Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.