rs1057520044
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057520044(A;G) |
Make rs1057520044(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 121498597 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520044 |
dbSNP (classic) | rs1057520044 |
ClinGen | rs1057520044 |
ebi | rs1057520044 |
HLI | rs1057520044 |
Exac | rs1057520044 |
Gnomad | rs1057520044 |
Varsome | rs1057520044 |
LitVar | rs1057520044 |
Map | rs1057520044 |
PheGenI | rs1057520044 |
Biobank | rs1057520044 |
1000 genomes | rs1057520044 |
hgdp | rs1057520044 |
ensembl | rs1057520044 |
geneview | rs1057520044 |
scholar | rs1057520044 |
rs1057520044 | |
pharmgkb | rs1057520044 |
gwascentral | rs1057520044 |
openSNP | rs1057520044 |
23andMe | rs1057520044 |
SNPshot | rs1057520044 |
SNPdbe | rs1057520044 |
MSV3d | rs1057520044 |
GWAS Ctlg | rs1057520044 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520044(G;G) |
Alt | rs1057520044(G;G) |
Reference | Rs1057520044(A;A) |
Significance | Probable-Pathogenic |
Disease | Craniosynostosis syndrome |
Variation | info |
Gene | FGFR2 |
CLNDBN | Craniosynostosis syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.123258111T>C |
CLNSRC | |
CLNACC | RCV000424161.1, |