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rs587784030

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784030(C;C)
Make rs587784030(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37051836
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784030
ebirs587784030
HLIrs587784030
Exacrs587784030
Varsomers587784030
Maprs587784030
PheGenIrs587784030
hapmaprs587784030
1000 genomesrs587784030
hgdprs587784030
ensemblrs587784030
gopubmedrs587784030
geneviewrs587784030
scholarrs587784030
googlers587784030
pharmgkbrs587784030
gwascentralrs587784030
openSNPrs587784030
23andMers587784030
23andMe allrs587784030
SNP Nexus

SNPshotrs587784030
SNPdbers587784030
MSV3drs587784030
GWAS Ctlgrs587784030
Max Magnitude0
ClinVar
Risk rs587784030(C;C)
Alt rs587784030(C;C)
Reference rs587784030(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.37051938G>C
CLNSRC
CLNACC RCV000146711.1,