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rs587784024

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784024(A;A)
Make rs587784024(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37049240
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784024
ebirs587784024
HLIrs587784024
Exacrs587784024
Varsomers587784024
Maprs587784024
PheGenIrs587784024
hapmaprs587784024
1000 genomesrs587784024
hgdprs587784024
ensemblrs587784024
gopubmedrs587784024
geneviewrs587784024
scholarrs587784024
googlers587784024
pharmgkbrs587784024
gwascentralrs587784024
openSNPrs587784024
23andMers587784024
23andMe allrs587784024
SNP Nexus

SNPshotrs587784024
SNPdbers587784024
MSV3drs587784024
GWAS Ctlgrs587784024
Max Magnitude0
ClinVar
Risk rs587784024(A;A)
Alt rs587784024(A;A)
Reference rs587784024(G;G)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37049342G>A
CLNSRC
CLNACC RCV000146705.1,