rs724159980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs724159980(A;A) |
Make rs724159980(A;CC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 36876937 |
Gene | NIPBL, NIPBL-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs724159980 |
dbSNP (classic) | rs724159980 |
ClinGen | rs724159980 |
ebi | rs724159980 |
HLI | rs724159980 |
Exac | rs724159980 |
Gnomad | rs724159980 |
Varsome | rs724159980 |
LitVar | rs724159980 |
Map | rs724159980 |
PheGenI | rs724159980 |
Biobank | rs724159980 |
1000 genomes | rs724159980 |
hgdp | rs724159980 |
ensembl | rs724159980 |
geneview | rs724159980 |
scholar | rs724159980 |
rs724159980 | |
pharmgkb | rs724159980 |
gwascentral | rs724159980 |
openSNP | rs724159980 |
23andMe | rs724159980 |
SNPshot | rs724159980 |
SNPdbe | rs724159980 |
MSV3d | rs724159980 |
GWAS Ctlg | rs724159980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159980(A;A) |
Alt | rs724159980(A;A) |
Reference | Rs724159980(CC;CC) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 1 |
Variation | info |
Gene | NIPBL NIPBL-AS1 |
CLNDBN | Cornelia de Lange syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.36877039_36877040delCCinsA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002233.2, |