rs786205239
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205239(AA;AA) |
Make rs786205239(AA;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2884859 |
Gene | CDKN1C, LOC107987413 |
is a | snp |
is | mentioned by |
dbSNP | rs786205239 |
dbSNP (classic) | rs786205239 |
ClinGen | rs786205239 |
ebi | rs786205239 |
HLI | rs786205239 |
Exac | rs786205239 |
Gnomad | rs786205239 |
Varsome | rs786205239 |
LitVar | rs786205239 |
Map | rs786205239 |
PheGenI | rs786205239 |
Biobank | rs786205239 |
1000 genomes | rs786205239 |
hgdp | rs786205239 |
ensembl | rs786205239 |
geneview | rs786205239 |
scholar | rs786205239 |
rs786205239 | |
pharmgkb | rs786205239 |
gwascentral | rs786205239 |
openSNP | rs786205239 |
23andMe | rs786205239 |
SNPshot | rs786205239 |
SNPdbe | rs786205239 |
MSV3d | rs786205239 |
GWAS Ctlg | rs786205239 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205239(AA;AA) |
Alt | rs786205239(AA;AA) |
Reference | Rs786205239(G;G) |
Significance | Pathogenic |
Disease | Beckwith-Wiedemann syndrome |
Variation | info |
Gene | CDKN1C |
CLNDBN | Beckwith-Wiedemann syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.2906089delCinsTT |
CLNSRC | |
CLNACC | RCV000172985.1, |