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rs587784025

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784025(G;T)
Make rs587784025(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37049282
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784025
ebirs587784025
HLIrs587784025
Exacrs587784025
Varsomers587784025
Maprs587784025
PheGenIrs587784025
hapmaprs587784025
1000 genomesrs587784025
hgdprs587784025
ensemblrs587784025
gopubmedrs587784025
geneviewrs587784025
scholarrs587784025
googlers587784025
pharmgkbrs587784025
gwascentralrs587784025
openSNPrs587784025
23andMers587784025
23andMe allrs587784025
SNP Nexus

SNPshotrs587784025
SNPdbers587784025
MSV3drs587784025
GWAS Ctlgrs587784025
Max Magnitude0
ClinVar
Risk rs587784025(T;T)
Alt rs587784025(T;T)
Reference rs587784025(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.37049384G>T
CLNSRC
CLNACC RCV000146706.1,