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rs587784019

From SNPedia

Orientationplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs587784019(-;-)
Make rs587784019(-;AAG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048544
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784019
ebirs587784019
HLIrs587784019
Exacrs587784019
Varsomers587784019
Maprs587784019
PheGenIrs587784019
hapmaprs587784019
1000 genomesrs587784019
hgdprs587784019
ensemblrs587784019
gopubmedrs587784019
geneviewrs587784019
scholarrs587784019
googlers587784019
pharmgkbrs587784019
gwascentralrs587784019
openSNPrs587784019
23andMers587784019
23andMe allrs587784019
SNP Nexus

SNPshotrs587784019
SNPdbers587784019
MSV3drs587784019
GWAS Ctlgrs587784019
Max Magnitude0
ClinVar
Risk rs587784019(;)
Alt rs587784019(;)
Reference rs587784019(AAG;AAG)
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.37048646_37048648delAAG
CLNSRC
CLNACC RCV000146698.1,