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rs587784039

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784039(A;A)
Make rs587784039(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37057228
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784039
ebirs587784039
HLIrs587784039
Exacrs587784039
Varsomers587784039
Maprs587784039
PheGenIrs587784039
hapmaprs587784039
1000 genomesrs587784039
hgdprs587784039
ensemblrs587784039
gopubmedrs587784039
geneviewrs587784039
scholarrs587784039
googlers587784039
pharmgkbrs587784039
gwascentralrs587784039
openSNPrs587784039
23andMers587784039
23andMe allrs587784039
SNP Nexus

SNPshotrs587784039
SNPdbers587784039
MSV3drs587784039
GWAS Ctlgrs587784039
Max Magnitude0
ClinVar
Risk rs587784039(A;A)
Alt rs587784039(A;A)
Reference rs587784039(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.37057330G>A
CLNSRC
CLNACC RCV000146721.1,