rs515726224
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs515726224(C;T) |
Make rs515726224(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 38417962 |
Gene | FGFR1 |
is a | snp |
is | mentioned by |
dbSNP | rs515726224 |
dbSNP (classic) | rs515726224 |
ClinGen | rs515726224 |
ebi | rs515726224 |
HLI | rs515726224 |
Exac | rs515726224 |
Gnomad | rs515726224 |
Varsome | rs515726224 |
LitVar | rs515726224 |
Map | rs515726224 |
PheGenI | rs515726224 |
Biobank | rs515726224 |
1000 genomes | rs515726224 |
hgdp | rs515726224 |
ensembl | rs515726224 |
geneview | rs515726224 |
scholar | rs515726224 |
rs515726224 | |
pharmgkb | rs515726224 |
gwascentral | rs515726224 |
openSNP | rs515726224 |
23andMe | rs515726224 |
SNPshot | rs515726224 |
SNPdbe | rs515726224 |
MSV3d | rs515726224 |
GWAS Ctlg | rs515726224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726224(T;T) |
Alt | rs515726224(T;T) |
Reference | Rs515726224(C;C) |
Significance | Pathogenic |
Disease | Kallmann syndrome 2 |
Variation | info |
Gene | FGFR1 |
CLNDBN | Kallmann syndrome 2 |
Reversed | 0 |
HGVS | NC_000008.10:g.38275480C>T |
CLNSRC | ClinVar Pin India |
CLNACC | RCV000119059.1, |