rs267606716
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606716(C;G) |
Make rs267606716(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2884110 |
Gene | CDKN1C |
is a | snp |
is | mentioned by |
dbSNP | rs267606716 |
dbSNP (classic) | rs267606716 |
ClinGen | rs267606716 |
ebi | rs267606716 |
HLI | rs267606716 |
Exac | rs267606716 |
Gnomad | rs267606716 |
Varsome | rs267606716 |
LitVar | rs267606716 |
Map | rs267606716 |
PheGenI | rs267606716 |
Biobank | rs267606716 |
1000 genomes | rs267606716 |
hgdp | rs267606716 |
ensembl | rs267606716 |
geneview | rs267606716 |
scholar | rs267606716 |
rs267606716 | |
pharmgkb | rs267606716 |
gwascentral | rs267606716 |
openSNP | rs267606716 |
23andMe | rs267606716 |
SNPshot | rs267606716 |
SNPdbe | rs267606716 |
MSV3d | rs267606716 |
GWAS Ctlg | rs267606716 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606716(A;A) rs267606716(G;G) |
Alt | rs267606716(A;A) rs267606716(G;G) |
Reference | Rs267606716(C;C) |
Significance | Pathogenic |
Disease | Beckwith-Wiedemann syndrome |
Variation | info |
Gene | CDKN1C |
CLNDBN | Beckwith-Wiedemann syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.2905340G>C; NC_000011.9:g.2905340G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009291.2, RCV000009292.3, |