rs878854401
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs878854401(A;G) |
Make rs878854401(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 177047518 |
Gene | TBL1XR1 |
is a | snp |
is | mentioned by |
dbSNP | rs878854401 |
dbSNP (classic) | rs878854401 |
ClinGen | rs878854401 |
ebi | rs878854401 |
HLI | rs878854401 |
Exac | rs878854401 |
Gnomad | rs878854401 |
Varsome | rs878854401 |
LitVar | rs878854401 |
Map | rs878854401 |
PheGenI | rs878854401 |
Biobank | rs878854401 |
1000 genomes | rs878854401 |
hgdp | rs878854401 |
ensembl | rs878854401 |
geneview | rs878854401 |
scholar | rs878854401 |
rs878854401 | |
pharmgkb | rs878854401 |
gwascentral | rs878854401 |
openSNP | rs878854401 |
23andMe | rs878854401 |
SNPshot | rs878854401 |
SNPdbe | rs878854401 |
MSV3d | rs878854401 |
GWAS Ctlg | rs878854401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854401(G;G) |
Alt | rs878854401(G;G) |
Reference | Rs878854401(A;A) |
Significance | Pathogenic |
Disease | Fitzsimmons-Guilbert syndrome |
Variation | info |
Gene | TBL1XR1 |
CLNDBN | Fitzsimmons-Guilbert syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.176765306T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211092.1, |