rs77632238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs77632238(C;T) |
Make rs77632238(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 37016106 |
Gene | NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs77632238 |
dbSNP (classic) | rs77632238 |
ClinGen | rs77632238 |
ebi | rs77632238 |
HLI | rs77632238 |
Exac | rs77632238 |
Gnomad | rs77632238 |
Varsome | rs77632238 |
LitVar | rs77632238 |
Map | rs77632238 |
PheGenI | rs77632238 |
Biobank | rs77632238 |
1000 genomes | rs77632238 |
hgdp | rs77632238 |
ensembl | rs77632238 |
geneview | rs77632238 |
scholar | rs77632238 |
rs77632238 | |
pharmgkb | rs77632238 |
gwascentral | rs77632238 |
openSNP | rs77632238 |
23andMe | rs77632238 |
SNPshot | rs77632238 |
SNPdbe | rs77632238 |
MSV3d | rs77632238 |
GWAS Ctlg | rs77632238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77632238(A;A) rs77632238(T;T) |
Alt | rs77632238(A;A) rs77632238(T;T) |
Reference | Rs77632238(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.37016208C>A |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000146620.1, |