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rs587784021

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs587784021(-;-)
Make rs587784021(-;TA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048560
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784021
ebirs587784021
HLIrs587784021
Exacrs587784021
Varsomers587784021
Maprs587784021
PheGenIrs587784021
hapmaprs587784021
1000 genomesrs587784021
hgdprs587784021
ensemblrs587784021
gopubmedrs587784021
geneviewrs587784021
scholarrs587784021
googlers587784021
pharmgkbrs587784021
gwascentralrs587784021
openSNPrs587784021
23andMers587784021
23andMe allrs587784021
SNP Nexus

SNPshotrs587784021
SNPdbers587784021
MSV3drs587784021
GWAS Ctlgrs587784021
Max Magnitude0
ClinVar
Risk rs587784021(;)
Alt rs587784021(;)
Reference rs587784021(TA;TA)
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.37048662_37048663delTA
CLNSRC
CLNACC RCV000146700.1,