rs397515514
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515514(G;T) |
Make rs397515514(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1807261 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515514 |
dbSNP (classic) | rs397515514 |
ClinGen | rs397515514 |
ebi | rs397515514 |
HLI | rs397515514 |
Exac | rs397515514 |
Gnomad | rs397515514 |
Varsome | rs397515514 |
LitVar | rs397515514 |
Map | rs397515514 |
PheGenI | rs397515514 |
Biobank | rs397515514 |
1000 genomes | rs397515514 |
hgdp | rs397515514 |
ensembl | rs397515514 |
geneview | rs397515514 |
scholar | rs397515514 |
rs397515514 | |
pharmgkb | rs397515514 |
gwascentral | rs397515514 |
openSNP | rs397515514 |
23andMe | rs397515514 |
SNPshot | rs397515514 |
SNPdbe | rs397515514 |
MSV3d | rs397515514 |
GWAS Ctlg | rs397515514 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515514(T;T) |
Alt | rs397515514(T;T) |
Reference | Rs397515514(G;G) |
Significance | Pathogenic |
Disease | Thanatophoric dysplasia type 1 not provided |
Variation | info |
Gene | FGFR3 |
CLNDBN | Thanatophoric dysplasia type 1 not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.1808988G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055764.1, RCV000478851.1, |