rs587783902
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783902(C;T) |
Make rs587783902(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 36985602 |
Gene | NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs587783902 |
dbSNP (classic) | rs587783902 |
ClinGen | rs587783902 |
ebi | rs587783902 |
HLI | rs587783902 |
Exac | rs587783902 |
Gnomad | rs587783902 |
Varsome | rs587783902 |
LitVar | rs587783902 |
Map | rs587783902 |
PheGenI | rs587783902 |
Biobank | rs587783902 |
1000 genomes | rs587783902 |
hgdp | rs587783902 |
ensembl | rs587783902 |
geneview | rs587783902 |
scholar | rs587783902 |
rs587783902 | |
pharmgkb | rs587783902 |
gwascentral | rs587783902 |
openSNP | rs587783902 |
23andMe | rs587783902 |
SNPshot | rs587783902 |
SNPdbe | rs587783902 |
MSV3d | rs587783902 |
GWAS Ctlg | rs587783902 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783902(T;T) |
Alt | rs587783902(T;T) |
Reference | Rs587783902(C;C) |
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.36985704C>T |
CLNSRC | |
CLNACC | RCV000146543.1, |