rs727503767
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727503767(-;-) |
Make rs727503767(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 36984981 |
Gene | NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs727503767 |
dbSNP (classic) | rs727503767 |
ClinGen | rs727503767 |
ebi | rs727503767 |
HLI | rs727503767 |
Exac | rs727503767 |
Gnomad | rs727503767 |
Varsome | rs727503767 |
LitVar | rs727503767 |
Map | rs727503767 |
PheGenI | rs727503767 |
Biobank | rs727503767 |
1000 genomes | rs727503767 |
hgdp | rs727503767 |
ensembl | rs727503767 |
geneview | rs727503767 |
scholar | rs727503767 |
rs727503767 | |
pharmgkb | rs727503767 |
gwascentral | rs727503767 |
openSNP | rs727503767 |
23andMe | rs727503767 |
SNPshot | rs727503767 |
SNPdbe | rs727503767 |
MSV3d | rs727503767 |
GWAS Ctlg | rs727503767 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503767(-;-) |
Alt | rs727503767(-;-) |
Reference | Rs727503767(A;A) |
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.36985083delA |
CLNSRC | |
CLNACC | RCV000157043.1, |