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rs587783947

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783947(C;C)
Make rs587783947(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37008723
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783947
ebirs587783947
HLIrs587783947
Exacrs587783947
Varsomers587783947
Maprs587783947
PheGenIrs587783947
hapmaprs587783947
1000 genomesrs587783947
hgdprs587783947
ensemblrs587783947
gopubmedrs587783947
geneviewrs587783947
scholarrs587783947
googlers587783947
pharmgkbrs587783947
gwascentralrs587783947
openSNPrs587783947
23andMers587783947
23andMe allrs587783947
SNP Nexus

SNPshotrs587783947
SNPdbers587783947
MSV3drs587783947
GWAS Ctlgrs587783947
Max Magnitude0
ClinVar
Risk rs587783947(C;C)
Alt rs587783947(C;C)
Reference rs587783947(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.37008825G>C
CLNSRC
CLNACC RCV000146608.1,