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rs587784008

From SNPedia

Orientationplus
Geno Mag Summary
(AAA;AAA) 0 common in clinvar
Make rs587784008(-;-)
Make rs587784008(-;AAA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37045461
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784008
ebirs587784008
HLIrs587784008
Exacrs587784008
Varsomers587784008
Maprs587784008
PheGenIrs587784008
hapmaprs587784008
1000 genomesrs587784008
hgdprs587784008
ensemblrs587784008
gopubmedrs587784008
geneviewrs587784008
scholarrs587784008
googlers587784008
pharmgkbrs587784008
gwascentralrs587784008
openSNPrs587784008
23andMers587784008
23andMe allrs587784008
SNP Nexus

SNPshotrs587784008
SNPdbers587784008
MSV3drs587784008
GWAS Ctlgrs587784008
Max Magnitude0
ClinVar
Risk rs587784008(;)
Alt rs587784008(;)
Reference rs587784008(AAA;AAA)
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.37045563_37045565delAAA
CLNSRC
CLNACC RCV000146684.1,