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rs587784012

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784012(A;G)
Make rs587784012(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955467
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784012
ebirs587784012
HLIrs587784012
Exacrs587784012
Varsomers587784012
Maprs587784012
PheGenIrs587784012
hapmaprs587784012
1000 genomesrs587784012
hgdprs587784012
ensemblrs587784012
gopubmedrs587784012
geneviewrs587784012
scholarrs587784012
googlers587784012
pharmgkbrs587784012
gwascentralrs587784012
openSNPrs587784012
23andMers587784012
23andMe allrs587784012
SNP Nexus

SNPshotrs587784012
SNPdbers587784012
MSV3drs587784012
GWAS Ctlgrs587784012
Max Magnitude0
ClinVar
Risk rs587784012(G;G)
Alt rs587784012(G;G)
Reference rs587784012(A;A)
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.36955569A>G
CLNSRC
CLNACC RCV000146690.1,