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rs587783885

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783885(-;-)
Make rs587783885(-;GA)
Make rs587783885(GA;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36976354
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783885
ebirs587783885
HLIrs587783885
Exacrs587783885
Varsomers587783885
Maprs587783885
PheGenIrs587783885
hapmaprs587783885
1000 genomesrs587783885
hgdprs587783885
ensemblrs587783885
gopubmedrs587783885
geneviewrs587783885
scholarrs587783885
googlers587783885
pharmgkbrs587783885
gwascentralrs587783885
openSNPrs587783885
23andMers587783885
23andMe allrs587783885
SNP Nexus

SNPshotrs587783885
SNPdbers587783885
MSV3drs587783885
GWAS Ctlgrs587783885
Max Magnitude0
ClinVar
Risk rs587783885(;)
Alt rs587783885(;)
Reference rs587783885(AG;AG)
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.36976456_36976457delGA
CLNSRC
CLNACC RCV000146519.1,