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rs587784053

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784053(C;C)
Make rs587784053(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37064650
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784053
ebirs587784053
HLIrs587784053
Exacrs587784053
Varsomers587784053
Maprs587784053
PheGenIrs587784053
hapmaprs587784053
1000 genomesrs587784053
hgdprs587784053
ensemblrs587784053
gopubmedrs587784053
geneviewrs587784053
scholarrs587784053
googlers587784053
pharmgkbrs587784053
gwascentralrs587784053
openSNPrs587784053
23andMers587784053
23andMe allrs587784053
SNP Nexus

SNPshotrs587784053
SNPdbers587784053
MSV3drs587784053
GWAS Ctlgrs587784053
Max Magnitude0
ClinVar
Risk rs587784053(C;C)
Alt rs587784053(C;C)
Reference rs587784053(G;G)
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.37064752G>C
CLNSRC
CLNACC RCV000146738.1,