Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784040

From SNPedia

Orientationplus
Geno Mag Summary
(GCC;GCC) 0 common in clinvar
Make rs587784040(-;-)
Make rs587784040(-;CCG)
Make rs587784040(CCG;CCG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37057258
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784040
ebirs587784040
HLIrs587784040
Exacrs587784040
Varsomers587784040
Maprs587784040
PheGenIrs587784040
hapmaprs587784040
1000 genomesrs587784040
hgdprs587784040
ensemblrs587784040
gopubmedrs587784040
geneviewrs587784040
scholarrs587784040
googlers587784040
pharmgkbrs587784040
gwascentralrs587784040
openSNPrs587784040
23andMers587784040
23andMe allrs587784040
SNP Nexus

SNPshotrs587784040
SNPdbers587784040
MSV3drs587784040
GWAS Ctlgrs587784040
Max Magnitude0
ClinVar
Risk rs587784040(;)
Alt rs587784040(;)
Reference rs587784040(GCC;GCC)
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.37057360_37057362delCCG
CLNSRC
CLNACC RCV000146722.1,