rs121913116
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913116(C;T) |
Make rs121913116(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1799395 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913116 |
dbSNP (classic) | rs121913116 |
ClinGen | rs121913116 |
ebi | rs121913116 |
HLI | rs121913116 |
Exac | rs121913116 |
Gnomad | rs121913116 |
Varsome | rs121913116 |
LitVar | rs121913116 |
Map | rs121913116 |
PheGenI | rs121913116 |
Biobank | rs121913116 |
1000 genomes | rs121913116 |
hgdp | rs121913116 |
ensembl | rs121913116 |
geneview | rs121913116 |
scholar | rs121913116 |
rs121913116 | |
pharmgkb | rs121913116 |
gwascentral | rs121913116 |
openSNP | rs121913116 |
23andMe | rs121913116 |
SNPshot | rs121913116 |
SNPdbe | rs121913116 |
MSV3d | rs121913116 |
GWAS Ctlg | rs121913116 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913116(T;T) |
Alt | rs121913116(T;T) |
Reference | Rs121913116(C;C) |
Significance | Pathogenic |
Disease | Hypochondroplasia |
Variation | info |
Gene | FGFR3 |
CLNDBN | Hypochondroplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.1801122C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017769.28, |