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rs587784007

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784007(A;A)
Make rs587784007(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044729
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784007
ebirs587784007
HLIrs587784007
Exacrs587784007
Varsomers587784007
Maprs587784007
PheGenIrs587784007
hapmaprs587784007
1000 genomesrs587784007
hgdprs587784007
ensemblrs587784007
gopubmedrs587784007
geneviewrs587784007
scholarrs587784007
googlers587784007
pharmgkbrs587784007
gwascentralrs587784007
openSNPrs587784007
23andMers587784007
23andMe allrs587784007
SNP Nexus

SNPshotrs587784007
SNPdbers587784007
MSV3drs587784007
GWAS Ctlgrs587784007
Max Magnitude0
ClinVar
Risk rs587784007(A;A)
Alt rs587784007(A;A)
Reference rs587784007(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.37044831G>A
CLNSRC
CLNACC RCV000146683.1,