rs869320694
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869320694(A;G) |
Make rs869320694(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 38414790 |
Gene | FGFR1 |
is a | snp |
is | mentioned by |
dbSNP | rs869320694 |
dbSNP (classic) | rs869320694 |
ClinGen | rs869320694 |
ebi | rs869320694 |
HLI | rs869320694 |
Exac | rs869320694 |
Gnomad | rs869320694 |
Varsome | rs869320694 |
LitVar | rs869320694 |
Map | rs869320694 |
PheGenI | rs869320694 |
Biobank | rs869320694 |
1000 genomes | rs869320694 |
hgdp | rs869320694 |
ensembl | rs869320694 |
geneview | rs869320694 |
scholar | rs869320694 |
rs869320694 | |
pharmgkb | rs869320694 |
gwascentral | rs869320694 |
openSNP | rs869320694 |
23andMe | rs869320694 |
SNPshot | rs869320694 |
SNPdbe | rs869320694 |
MSV3d | rs869320694 |
GWAS Ctlg | rs869320694 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320694(G;G) |
Alt | rs869320694(G;G) |
Reference | Rs869320694(A;A) |
Significance | Pathogenic |
Disease | Encephalocraniocutaneous lipomatosis Glioblastoma Lymphoblastic leukemia Transitional cell carcinoma of the bladder Astrocytoma Hepatocellular carcinoma Medulloblastoma |
Variation | info |
Gene | FGFR1 |
CLNDBN | Encephalocraniocutaneous lipomatosis Glioblastoma Lymphoblastic leukemia, acute, with lymphomatous features Transitional cell carcinoma of the bladder Astrocytoma Hepatocellular carcinoma Medulloblastoma |
Reversed | 1 |
HGVS | NC_000008.10:g.38272308T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210479.2, RCV000420160.1, RCV000420790.1, RCV000428027.1, RCV000430840.1, RCV000438709.1, RCV000441552.1, |