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rs587784037

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784037(-;-)
Make rs587784037(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37052501
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784037
ebirs587784037
HLIrs587784037
Exacrs587784037
Varsomers587784037
Maprs587784037
PheGenIrs587784037
hapmaprs587784037
1000 genomesrs587784037
hgdprs587784037
ensemblrs587784037
gopubmedrs587784037
geneviewrs587784037
scholarrs587784037
googlers587784037
pharmgkbrs587784037
gwascentralrs587784037
openSNPrs587784037
23andMers587784037
23andMe allrs587784037
SNP Nexus

SNPshotrs587784037
SNPdbers587784037
MSV3drs587784037
GWAS Ctlgrs587784037
Max Magnitude0
ClinVar
Risk rs587784037(;)
Alt rs587784037(;)
Reference rs587784037(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.37052603delC
CLNSRC
CLNACC RCV000146718.1,