rs779707422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779707422(A;A) |
Make rs779707422(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 38417331 |
Gene | FGFR1 |
is a | snp |
is | mentioned by |
dbSNP | rs779707422 |
dbSNP (classic) | rs779707422 |
ClinGen | rs779707422 |
ebi | rs779707422 |
HLI | rs779707422 |
Exac | rs779707422 |
Gnomad | rs779707422 |
Varsome | rs779707422 |
LitVar | rs779707422 |
Map | rs779707422 |
PheGenI | rs779707422 |
Biobank | rs779707422 |
1000 genomes | rs779707422 |
hgdp | rs779707422 |
ensembl | rs779707422 |
geneview | rs779707422 |
scholar | rs779707422 |
rs779707422 | |
pharmgkb | rs779707422 |
gwascentral | rs779707422 |
openSNP | rs779707422 |
23andMe | rs779707422 |
SNPshot | rs779707422 |
SNPdbe | rs779707422 |
MSV3d | rs779707422 |
GWAS Ctlg | rs779707422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779707422(A;A) rs779707422(T;T) |
Alt | rs779707422(A;A) rs779707422(T;T) |
Reference | Rs779707422(G;G) |
Significance | Pathogenic |
Disease | Encephalocraniocutaneous lipomatosis Adenocarcinoma of stomach Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor |
Variation | info |
Gene | FGFR1 |
CLNDBN | Encephalocraniocutaneous lipomatosis Adenocarcinoma of stomach Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor |
Reversed | 0 |
HGVS | NC_000008.10:g.38274849G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210485.2, RCV000422315.1, RCV000428878.1, RCV000429528.1, RCV000439566.1, RCV000440238.1, RCV000487433.1, |