rs121913112
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913112(A;A) |
Make rs121913112(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1805561 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913112 |
dbSNP (classic) | rs121913112 |
ClinGen | rs121913112 |
ebi | rs121913112 |
HLI | rs121913112 |
Exac | rs121913112 |
Gnomad | rs121913112 |
Varsome | rs121913112 |
LitVar | rs121913112 |
Map | rs121913112 |
PheGenI | rs121913112 |
Biobank | rs121913112 |
1000 genomes | rs121913112 |
hgdp | rs121913112 |
ensembl | rs121913112 |
geneview | rs121913112 |
scholar | rs121913112 |
rs121913112 | |
pharmgkb | rs121913112 |
gwascentral | rs121913112 |
openSNP | rs121913112 |
23andMe | rs121913112 |
SNPshot | rs121913112 |
SNPdbe | rs121913112 |
MSV3d | rs121913112 |
GWAS Ctlg | rs121913112 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913112(A;A) |
Alt | rs121913112(A;A) |
Reference | Rs121913112(G;G) |
Significance | Pathogenic |
Disease | Levy-Hollister syndrome |
Variation | info |
Gene | FGFR3 |
CLNDBN | Levy-Hollister syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.1807288G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017764.28, |