rs587784052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT) | 0 | common in clinvar |
Make rs587784052(-;-) |
Make rs587784052(-;CACAAATTGCAAGAGTAGT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 37064642 |
Gene | C5orf42, NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs587784052 |
dbSNP (classic) | rs587784052 |
ClinGen | rs587784052 |
ebi | rs587784052 |
HLI | rs587784052 |
Exac | rs587784052 |
Gnomad | rs587784052 |
Varsome | rs587784052 |
LitVar | rs587784052 |
Map | rs587784052 |
PheGenI | rs587784052 |
Biobank | rs587784052 |
1000 genomes | rs587784052 |
hgdp | rs587784052 |
ensembl | rs587784052 |
geneview | rs587784052 |
scholar | rs587784052 |
rs587784052 | |
pharmgkb | rs587784052 |
gwascentral | rs587784052 |
openSNP | rs587784052 |
23andMe | rs587784052 |
SNPshot | rs587784052 |
SNPdbe | rs587784052 |
MSV3d | rs587784052 |
GWAS Ctlg | rs587784052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784052(-;-) |
Alt | rs587784052(-;-) |
Reference | Rs587784052(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 1 |
Variation | info |
Gene | NIPBL |
CLNDBN | Cornelia de Lange syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.37064744_37064762del19 |
CLNSRC | |
CLNACC | RCV000146737.1, |