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rs587784002

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784002(G;T)
Make rs587784002(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044636
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784002
ebirs587784002
HLIrs587784002
Exacrs587784002
Varsomers587784002
Maprs587784002
PheGenIrs587784002
hapmaprs587784002
1000 genomesrs587784002
hgdprs587784002
ensemblrs587784002
gopubmedrs587784002
geneviewrs587784002
scholarrs587784002
googlers587784002
pharmgkbrs587784002
gwascentralrs587784002
openSNPrs587784002
23andMers587784002
23andMe allrs587784002
SNP Nexus

SNPshotrs587784002
SNPdbers587784002
MSV3drs587784002
GWAS Ctlgrs587784002
Max Magnitude0
ClinVar
Risk rs587784002(T;T)
Alt rs587784002(T;T)
Reference rs587784002(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.37044738G>T
CLNSRC
CLNACC RCV000146677.1,