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rs587784034

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784034(-;-)
Make rs587784034(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37052409
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784034
ebirs587784034
HLIrs587784034
Exacrs587784034
Varsomers587784034
Maprs587784034
PheGenIrs587784034
hapmaprs587784034
1000 genomesrs587784034
hgdprs587784034
ensemblrs587784034
gopubmedrs587784034
geneviewrs587784034
scholarrs587784034
googlers587784034
pharmgkbrs587784034
gwascentralrs587784034
openSNPrs587784034
23andMers587784034
23andMe allrs587784034
SNP Nexus

SNPshotrs587784034
SNPdbers587784034
MSV3drs587784034
GWAS Ctlgrs587784034
Max Magnitude0
ClinVar
Risk rs587784034(;)
Alt rs587784034(;)
Reference rs587784034(A;A)
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.37052511delA
CLNSRC
CLNACC RCV000146715.1,