rs1057519045
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519045(A;C) |
Make rs1057519045(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 121498522 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519045 |
dbSNP (classic) | rs1057519045 |
ClinGen | rs1057519045 |
ebi | rs1057519045 |
HLI | rs1057519045 |
Exac | rs1057519045 |
Gnomad | rs1057519045 |
Varsome | rs1057519045 |
LitVar | rs1057519045 |
Map | rs1057519045 |
PheGenI | rs1057519045 |
Biobank | rs1057519045 |
1000 genomes | rs1057519045 |
hgdp | rs1057519045 |
ensembl | rs1057519045 |
geneview | rs1057519045 |
scholar | rs1057519045 |
rs1057519045 | |
pharmgkb | rs1057519045 |
gwascentral | rs1057519045 |
openSNP | rs1057519045 |
23andMe | rs1057519045 |
SNPshot | rs1057519045 |
SNPdbe | rs1057519045 |
MSV3d | rs1057519045 |
GWAS Ctlg | rs1057519045 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519045(C;C) |
Alt | rs1057519045(C;C) |
Reference | Rs1057519045(A;A) |
Significance | Probable-Pathogenic |
Disease | Crouzon syndrome Neoplasm of breast Nasopharyngeal Neoplasms Adenocarcinoma of lung Endometrial Endometrioid Adenocarcinoma Malignant neoplasm of body of uterus |
Variation | info |
Gene | FGFR2 |
CLNDBN | Crouzon syndrome Neoplasm of breast Nasopharyngeal Neoplasms Adenocarcinoma of lung Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Malignant neoplasm of body of uterus |
Reversed | 1 |
HGVS | NC_000010.10:g.123258036T>G |
CLNSRC | |
CLNACC | RCV000415507.1, RCV000418082.1, RCV000425472.1, RCV000428300.1, RCV000432507.1, RCV000435736.1, |