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rs587784003

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784003(G;G)
Make rs587784003(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044652
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784003
ebirs587784003
HLIrs587784003
Exacrs587784003
Varsomers587784003
Maprs587784003
PheGenIrs587784003
hapmaprs587784003
1000 genomesrs587784003
hgdprs587784003
ensemblrs587784003
gopubmedrs587784003
geneviewrs587784003
scholarrs587784003
googlers587784003
pharmgkbrs587784003
gwascentralrs587784003
openSNPrs587784003
23andMers587784003
23andMe allrs587784003
SNP Nexus

SNPshotrs587784003
SNPdbers587784003
MSV3drs587784003
GWAS Ctlgrs587784003
Max Magnitude0
ClinVar
Risk rs587784003(G;G)
Alt rs587784003(G;G)
Reference rs587784003(T;T)
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.37044754T>G
CLNSRC
CLNACC RCV000146678.1,