rs387907225
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907225(A;A) |
Make rs387907225(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2884670 |
Gene | CDKN1C, LOC107987413 |
is a | snp |
is | mentioned by |
dbSNP | rs387907225 |
dbSNP (classic) | rs387907225 |
ClinGen | rs387907225 |
ebi | rs387907225 |
HLI | rs387907225 |
Exac | rs387907225 |
Gnomad | rs387907225 |
Varsome | rs387907225 |
LitVar | rs387907225 |
Map | rs387907225 |
PheGenI | rs387907225 |
Biobank | rs387907225 |
1000 genomes | rs387907225 |
hgdp | rs387907225 |
ensembl | rs387907225 |
geneview | rs387907225 |
scholar | rs387907225 |
rs387907225 | |
pharmgkb | rs387907225 |
gwascentral | rs387907225 |
openSNP | rs387907225 |
23andMe | rs387907225 |
SNPshot | rs387907225 |
SNPdbe | rs387907225 |
MSV3d | rs387907225 |
GWAS Ctlg | rs387907225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907225(A;A) |
Alt | rs387907225(A;A) |
Reference | Rs387907225(G;G) |
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.2905900C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029186.4, |