rs121913101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913101(G;G) |
Make rs121913101(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1807260 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913101 |
dbSNP (classic) | rs121913101 |
ClinGen | rs121913101 |
ebi | rs121913101 |
HLI | rs121913101 |
Exac | rs121913101 |
Gnomad | rs121913101 |
Varsome | rs121913101 |
LitVar | rs121913101 |
Map | rs121913101 |
PheGenI | rs121913101 |
Biobank | rs121913101 |
1000 genomes | rs121913101 |
hgdp | rs121913101 |
ensembl | rs121913101 |
geneview | rs121913101 |
scholar | rs121913101 |
rs121913101 | |
pharmgkb | rs121913101 |
gwascentral | rs121913101 |
openSNP | rs121913101 |
23andMe | rs121913101 |
SNPshot | rs121913101 |
SNPdbe | rs121913101 |
MSV3d | rs121913101 |
GWAS Ctlg | rs121913101 |
Merged from | Rs121913102 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913101(A;A) rs121913101(C;C) rs121913101(G;G) |
Alt | rs121913101(A;A) rs121913101(C;C) rs121913101(G;G) |
Reference | Rs121913101(T;T) |
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.1808987T>A; NC_000004.11:g.1808987T>C; NC_000004.11:g.1808987T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017738.28, RCV000055763.1, RCV000017737.28, RCV000493112.1, |