rs387906677
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906677(G;G) |
Make rs387906677(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 121515232 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906677 |
dbSNP (classic) | rs387906677 |
ClinGen | rs387906677 |
ebi | rs387906677 |
HLI | rs387906677 |
Exac | rs387906677 |
Gnomad | rs387906677 |
Varsome | rs387906677 |
LitVar | rs387906677 |
Map | rs387906677 |
PheGenI | rs387906677 |
Biobank | rs387906677 |
1000 genomes | rs387906677 |
hgdp | rs387906677 |
ensembl | rs387906677 |
geneview | rs387906677 |
scholar | rs387906677 |
rs387906677 | |
pharmgkb | rs387906677 |
gwascentral | rs387906677 |
openSNP | rs387906677 |
23andMe | rs387906677 |
SNPshot | rs387906677 |
SNPdbe | rs387906677 |
MSV3d | rs387906677 |
GWAS Ctlg | rs387906677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906677(G;G) |
Alt | rs387906677(G;G) |
Reference | Rs387906677(T;T) |
Significance | Pathogenic |
Disease | Bent bone dysplasia syndrome not provided |
Variation | info |
Gene | FGFR2 |
CLNDBN | Bent bone dysplasia syndrome not provided |
Reversed | 1 |
HGVS | NC_000010.10:g.123274746A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022734.26, RCV000493423.1, |