rs121913113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913113(A;A) |
Make rs121913113(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1806076 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913113 |
dbSNP (classic) | rs121913113 |
ClinGen | rs121913113 |
ebi | rs121913113 |
HLI | rs121913113 |
Exac | rs121913113 |
Gnomad | rs121913113 |
Varsome | rs121913113 |
LitVar | rs121913113 |
Map | rs121913113 |
PheGenI | rs121913113 |
Biobank | rs121913113 |
1000 genomes | rs121913113 |
hgdp | rs121913113 |
ensembl | rs121913113 |
geneview | rs121913113 |
scholar | rs121913113 |
rs121913113 | |
pharmgkb | rs121913113 |
gwascentral | rs121913113 |
openSNP | rs121913113 |
23andMe | rs121913113 |
SNPshot | rs121913113 |
SNPdbe | rs121913113 |
MSV3d | rs121913113 |
GWAS Ctlg | rs121913113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913113(A;A) |
Alt | rs121913113(A;A) |
Reference | Rs121913113(G;G) |
Significance | Pathogenic |
Disease | Camptodactyly |
Variation | info |
Gene | FGFR3 |
CLNDBN | Camptodactyly, tall stature, and hearing loss syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.1807803G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017765.29, |