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rs587784009

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784009(A;A)
Make rs587784009(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36953761
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784009
ebirs587784009
HLIrs587784009
Exacrs587784009
Varsomers587784009
Maprs587784009
PheGenIrs587784009
hapmaprs587784009
1000 genomesrs587784009
hgdprs587784009
ensemblrs587784009
gopubmedrs587784009
geneviewrs587784009
scholarrs587784009
googlers587784009
pharmgkbrs587784009
gwascentralrs587784009
openSNPrs587784009
23andMers587784009
23andMe allrs587784009
SNP Nexus

SNPshotrs587784009
SNPdbers587784009
MSV3drs587784009
GWAS Ctlgrs587784009
Max Magnitude0
ClinVar
Risk rs587784009(A;A)
Alt rs587784009(A;A)
Reference rs587784009(G;G)
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.36953863G>A
CLNSRC
CLNACC RCV000146685.2,