rs121913484
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913484(A;T) |
Make rs121913484(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1804365 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913484 |
dbSNP (classic) | rs121913484 |
ClinGen | rs121913484 |
ebi | rs121913484 |
HLI | rs121913484 |
Exac | rs121913484 |
Gnomad | rs121913484 |
Varsome | rs121913484 |
LitVar | rs121913484 |
Map | rs121913484 |
PheGenI | rs121913484 |
Biobank | rs121913484 |
1000 genomes | rs121913484 |
hgdp | rs121913484 |
ensembl | rs121913484 |
geneview | rs121913484 |
scholar | rs121913484 |
rs121913484 | |
pharmgkb | rs121913484 |
gwascentral | rs121913484 |
openSNP | rs121913484 |
23andMe | rs121913484 |
SNPshot | rs121913484 |
SNPdbe | rs121913484 |
MSV3d | rs121913484 |
GWAS Ctlg | rs121913484 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913484(T;T) |
Alt | rs121913484(T;T) |
Reference | Rs121913484(A;A) |
Significance | Pathogenic |
Disease | Thanatophoric dysplasia type 1 Bladder carcinoma Carcinoma |
Variation | info |
Gene | FGFR3 |
CLNDBN | Thanatophoric dysplasia type 1 Bladder carcinoma Carcinoma |
Reversed | 0 |
HGVS | NC_000004.11:g.1806092A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017736.28, RCV000431173.1, RCV000441695.1, |