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rs587784063

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784063(-;-)
Make rs587784063(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975799
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784063
ebirs587784063
HLIrs587784063
Exacrs587784063
Varsomers587784063
Maprs587784063
PheGenIrs587784063
hapmaprs587784063
1000 genomesrs587784063
hgdprs587784063
ensemblrs587784063
gopubmedrs587784063
geneviewrs587784063
scholarrs587784063
googlers587784063
pharmgkbrs587784063
gwascentralrs587784063
openSNPrs587784063
23andMers587784063
23andMe allrs587784063
SNP Nexus

SNPshotrs587784063
SNPdbers587784063
MSV3drs587784063
GWAS Ctlgrs587784063
Max Magnitude0
ClinVar
Risk rs587784063(;)
Alt rs587784063(;)
Reference rs587784063(C;C)
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.36975901delC
CLNSRC
CLNACC RCV000146749.1,