rs863224946
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224946(C;G) |
Make rs863224946(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 150125501 |
Gene | PDGFRB |
is a | snp |
is | mentioned by |
dbSNP | rs863224946 |
dbSNP (classic) | rs863224946 |
ClinGen | rs863224946 |
ebi | rs863224946 |
HLI | rs863224946 |
Exac | rs863224946 |
Gnomad | rs863224946 |
Varsome | rs863224946 |
LitVar | rs863224946 |
Map | rs863224946 |
PheGenI | rs863224946 |
Biobank | rs863224946 |
1000 genomes | rs863224946 |
hgdp | rs863224946 |
ensembl | rs863224946 |
geneview | rs863224946 |
scholar | rs863224946 |
rs863224946 | |
pharmgkb | rs863224946 |
gwascentral | rs863224946 |
openSNP | rs863224946 |
23andMe | rs863224946 |
SNPshot | rs863224946 |
SNPdbe | rs863224946 |
MSV3d | rs863224946 |
GWAS Ctlg | rs863224946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224946(G;G) |
Alt | rs863224946(G;G) |
Reference | Rs863224946(C;C) |
Significance | Pathogenic |
Disease | Kosaki overgrowth syndrome |
Variation | info |
Gene | PDGFRB |
CLNDBN | Kosaki overgrowth syndrome |
Reversed | 1 |
HGVS | NC_000005.9:g.149505064G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000200957.2, |