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rs587784000

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784000(G;T)
Make rs587784000(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044480
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784000
ebirs587784000
HLIrs587784000
Exacrs587784000
Varsomers587784000
Maprs587784000
PheGenIrs587784000
hapmaprs587784000
1000 genomesrs587784000
hgdprs587784000
ensemblrs587784000
gopubmedrs587784000
geneviewrs587784000
scholarrs587784000
googlers587784000
pharmgkbrs587784000
gwascentralrs587784000
openSNPrs587784000
23andMers587784000
23andMe allrs587784000
SNP Nexus

SNPshotrs587784000
SNPdbers587784000
MSV3drs587784000
GWAS Ctlgrs587784000
Max Magnitude0
ClinVar
Risk rs587784000(T;T)
Alt rs587784000(T;T)
Reference rs587784000(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.37044582G>T
CLNSRC
CLNACC RCV000146675.1,