Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783923

From SNPedia

Orientationplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs587783923(-;-)
Make rs587783923(-;CT)
Make rs587783923(CT;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37000529
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783923
ebirs587783923
HLIrs587783923
Exacrs587783923
Varsomers587783923
Maprs587783923
PheGenIrs587783923
hapmaprs587783923
1000 genomesrs587783923
hgdprs587783923
ensemblrs587783923
gopubmedrs587783923
geneviewrs587783923
scholarrs587783923
googlers587783923
pharmgkbrs587783923
gwascentralrs587783923
openSNPrs587783923
23andMers587783923
23andMe allrs587783923
SNP Nexus

SNPshotrs587783923
SNPdbers587783923
MSV3drs587783923
GWAS Ctlgrs587783923
Max Magnitude0
ClinVar
Risk rs587783923(;)
Alt rs587783923(;)
Reference rs587783923(TC;TC)
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.37000631_37000632delCT
CLNSRC
CLNACC RCV000146577.1,