rs121913103
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913103(A;T) |
Make rs121913103(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 1807262 |
Gene | FGFR3 |
is a | snp |
is | mentioned by |
dbSNP | rs121913103 |
dbSNP (classic) | rs121913103 |
ClinGen | rs121913103 |
ebi | rs121913103 |
HLI | rs121913103 |
Exac | rs121913103 |
Gnomad | rs121913103 |
Varsome | rs121913103 |
LitVar | rs121913103 |
Map | rs121913103 |
PheGenI | rs121913103 |
Biobank | rs121913103 |
1000 genomes | rs121913103 |
hgdp | rs121913103 |
ensembl | rs121913103 |
geneview | rs121913103 |
scholar | rs121913103 |
rs121913103 | |
pharmgkb | rs121913103 |
gwascentral | rs121913103 |
openSNP | rs121913103 |
23andMe | rs121913103 |
SNPshot | rs121913103 |
SNPdbe | rs121913103 |
MSV3d | rs121913103 |
GWAS Ctlg | rs121913103 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913103(C;C) rs121913103(G;G) rs121913103(T;T) |
Alt | rs121913103(C;C) rs121913103(G;G) rs121913103(T;T) |
Reference | Rs121913103(A;A) |
Significance | Pathogenic |
Disease | Thanatophoric dysplasia type 1 |
Variation | info |
Gene | FGFR3 |
CLNDBN | Thanatophoric dysplasia type 1 |
Reversed | 0 |
HGVS | NC_000004.11:g.1808989A>C; NC_000004.11:g.1808989A>G; NC_000004.11:g.1808989A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055765.1, RCV000055766.1, RCV000017739.24, |