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rs587784022

From SNPedia

Orientationplus
Geno Mag Summary
(ATA;ATA) 0 common in clinvar
Make rs587784022(-;-)
Make rs587784022(-;ATA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048565
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784022
ebirs587784022
HLIrs587784022
Exacrs587784022
Varsomers587784022
Maprs587784022
PheGenIrs587784022
hapmaprs587784022
1000 genomesrs587784022
hgdprs587784022
ensemblrs587784022
gopubmedrs587784022
geneviewrs587784022
scholarrs587784022
googlers587784022
pharmgkbrs587784022
gwascentralrs587784022
openSNPrs587784022
23andMers587784022
23andMe allrs587784022
SNP Nexus

SNPshotrs587784022
SNPdbers587784022
MSV3drs587784022
GWAS Ctlgrs587784022
Max Magnitude0
ClinVar
Risk rs587784022(;)
Alt rs587784022(;)
Reference rs587784022(ATA;ATA)
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.37048667_37048669delATA
CLNSRC
CLNACC RCV000146701.1,