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rs587784052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT) 0 common in clinvar
Make rs587784052(-;-)
Make rs587784052(-;CACAAATTGCAAGAGTAGT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37064642
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs587784052
dbSNP (old)rs587784052
ClinGenrs587784052
ebirs587784052
HLIrs587784052
Exacrs587784052
Gnomadrs587784052
Varsomers587784052
Maprs587784052
PheGenIrs587784052
Biobankrs587784052
1000 genomesrs587784052
hgdprs587784052
ensemblrs587784052
gopubmedrs587784052
geneviewrs587784052
scholarrs587784052
googlers587784052
pharmgkbrs587784052
gwascentralrs587784052
openSNPrs587784052
23andMers587784052
23andMe allrs587784052
SNP Nexus

SNPshotrs587784052
SNPdbers587784052
MSV3drs587784052
GWAS Ctlgrs587784052
Max Magnitude0
ClinVar
Risk rs587784052(-;-)
Alt rs587784052(-;-)
Reference Rs587784052(CACAAATTGCAAGAGTAGT;CACAAATTGCAAGAGTAGT)
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.37064744_37064762del19
CLNSRC
CLNACC RCV000146737.1,