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rs587784035

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784035(A;A)
Make rs587784035(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37052444
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784035
ebirs587784035
HLIrs587784035
Exacrs587784035
Varsomers587784035
Maprs587784035
PheGenIrs587784035
hapmaprs587784035
1000 genomesrs587784035
hgdprs587784035
ensemblrs587784035
gopubmedrs587784035
geneviewrs587784035
scholarrs587784035
googlers587784035
pharmgkbrs587784035
gwascentralrs587784035
openSNPrs587784035
23andMers587784035
23andMe allrs587784035
SNP Nexus

SNPshotrs587784035
SNPdbers587784035
MSV3drs587784035
GWAS Ctlgrs587784035
Max Magnitude0
ClinVar
Risk rs587784035(A;A)
Alt rs587784035(A;A)
Reference rs587784035(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.37052546G>A
CLNSRC
CLNACC RCV000146716.1,