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rs587784004

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784004(C;C)
Make rs587784004(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044702
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784004
ebirs587784004
HLIrs587784004
Exacrs587784004
Varsomers587784004
Maprs587784004
PheGenIrs587784004
hapmaprs587784004
1000 genomesrs587784004
hgdprs587784004
ensemblrs587784004
gopubmedrs587784004
geneviewrs587784004
scholarrs587784004
googlers587784004
pharmgkbrs587784004
gwascentralrs587784004
openSNPrs587784004
23andMers587784004
23andMe allrs587784004
SNP Nexus

SNPshotrs587784004
SNPdbers587784004
MSV3drs587784004
GWAS Ctlgrs587784004
Max Magnitude0
ClinVar
Risk rs587784004(C;C)
Alt rs587784004(C;C)
Reference rs587784004(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.37044804G>C
CLNSRC
CLNACC RCV000146679.1,