rs387907224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387907224(C;C) |
Make rs387907224(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2884128 |
Gene | CDKN1C |
is a | snp |
is | mentioned by |
dbSNP | rs387907224 |
dbSNP (classic) | rs387907224 |
ClinGen | rs387907224 |
ebi | rs387907224 |
HLI | rs387907224 |
Exac | rs387907224 |
Gnomad | rs387907224 |
Varsome | rs387907224 |
LitVar | rs387907224 |
Map | rs387907224 |
PheGenI | rs387907224 |
Biobank | rs387907224 |
1000 genomes | rs387907224 |
hgdp | rs387907224 |
ensembl | rs387907224 |
geneview | rs387907224 |
scholar | rs387907224 |
rs387907224 | |
pharmgkb | rs387907224 |
gwascentral | rs387907224 |
openSNP | rs387907224 |
23andMe | rs387907224 |
SNPshot | rs387907224 |
SNPdbe | rs387907224 |
MSV3d | rs387907224 |
GWAS Ctlg | rs387907224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907224(C;C) |
Alt | rs387907224(C;C) |
Reference | Rs387907224(T;T) |
Significance | Pathogenic |
Disease | Intrauterine growth retardation |
Variation | info |
Gene | CDKN1C |
CLNDBN | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies |
Reversed | 1 |
HGVS | NC_000011.9:g.2905358A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029184.5, |