Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784011

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784011(A;A)
Make rs587784011(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36953765
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784011
ebirs587784011
HLIrs587784011
Exacrs587784011
Varsomers587784011
Maprs587784011
PheGenIrs587784011
hapmaprs587784011
1000 genomesrs587784011
hgdprs587784011
ensemblrs587784011
gopubmedrs587784011
geneviewrs587784011
scholarrs587784011
googlers587784011
pharmgkbrs587784011
gwascentralrs587784011
openSNPrs587784011
23andMers587784011
23andMe allrs587784011
SNP Nexus

SNPshotrs587784011
SNPdbers587784011
MSV3drs587784011
GWAS Ctlgrs587784011
Max Magnitude0
ClinVar
Risk rs587784011(A;A)
Alt rs587784011(A;A)
Reference rs587784011(G;G)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36953867G>A
CLNSRC
CLNACC RCV000146687.1,