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rs587784056

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587784056(-;-)
Make rs587784056(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37064777
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs587784056
ebirs587784056
HLIrs587784056
Exacrs587784056
Varsomers587784056
Maprs587784056
PheGenIrs587784056
hapmaprs587784056
1000 genomesrs587784056
hgdprs587784056
ensemblrs587784056
gopubmedrs587784056
geneviewrs587784056
scholarrs587784056
googlers587784056
pharmgkbrs587784056
gwascentralrs587784056
openSNPrs587784056
23andMers587784056
23andMe allrs587784056
SNP Nexus

SNPshotrs587784056
SNPdbers587784056
MSV3drs587784056
GWAS Ctlgrs587784056
Max Magnitude0
ClinVar
Risk rs587784056(;)
Alt rs587784056(;)
Reference rs587784056(AA;AA)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37064879_37064880delAA
CLNSRC
CLNACC RCV000146741.1,