rs387906399
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs387906399(CT;G) |
Make rs387906399(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2885179 |
Gene | CDKN1C, LOC107987413 |
is a | snp |
is | mentioned by |
dbSNP | rs387906399 |
dbSNP (classic) | rs387906399 |
ClinGen | rs387906399 |
ebi | rs387906399 |
HLI | rs387906399 |
Exac | rs387906399 |
Gnomad | rs387906399 |
Varsome | rs387906399 |
LitVar | rs387906399 |
Map | rs387906399 |
PheGenI | rs387906399 |
Biobank | rs387906399 |
1000 genomes | rs387906399 |
hgdp | rs387906399 |
ensembl | rs387906399 |
geneview | rs387906399 |
scholar | rs387906399 |
rs387906399 | |
pharmgkb | rs387906399 |
gwascentral | rs387906399 |
openSNP | rs387906399 |
23andMe | rs387906399 |
SNPshot | rs387906399 |
SNPdbe | rs387906399 |
MSV3d | rs387906399 |
GWAS Ctlg | rs387906399 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906399(G;G) |
Alt | rs387906399(G;G) |
Reference | Rs387906399(CT;CT) |
Significance | Pathogenic |
Disease | Beckwith-Wiedemann syndrome |
Variation | info |
Gene | CDKN1C |
CLNDBN | Beckwith-Wiedemann syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.2906409_2906410delAGinsC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009289.3, |