rs28929498
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28929498(A;T) |
Make rs28929498(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 89014221 |
Gene | FAS |
is a | snp |
is | mentioned by |
dbSNP | rs28929498 |
dbSNP (classic) | rs28929498 |
ClinGen | rs28929498 |
ebi | rs28929498 |
HLI | rs28929498 |
Exac | rs28929498 |
Gnomad | rs28929498 |
Varsome | rs28929498 |
LitVar | rs28929498 |
Map | rs28929498 |
PheGenI | rs28929498 |
Biobank | rs28929498 |
1000 genomes | rs28929498 |
hgdp | rs28929498 |
ensembl | rs28929498 |
geneview | rs28929498 |
scholar | rs28929498 |
rs28929498 | |
pharmgkb | rs28929498 |
gwascentral | rs28929498 |
openSNP | rs28929498 |
23andMe | rs28929498 |
SNPshot | rs28929498 |
SNPdbe | rs28929498 |
MSV3d | rs28929498 |
GWAS Ctlg | rs28929498 |
Max Magnitude | 0 |
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
ClinVar | |
---|---|
Risk | rs28929498(T;T) |
Alt | rs28929498(T;T) |
Reference | Rs28929498(A;A) |
Significance | Pathogenic |
Disease | Autoimmune lymphoproliferative syndrome |
Variation | info |
Gene | FAS |
CLNDBN | Autoimmune lymphoproliferative syndrome, type 1a |
Reversed | 0 |
HGVS | NC_000010.10:g.90773978A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017968.25, |