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

rs587784059

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784059(A;A)
Make rs587784059(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975775
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784059
ebirs587784059
HLIrs587784059
Exacrs587784059
Varsomers587784059
Maprs587784059
PheGenIrs587784059
hapmaprs587784059
1000 genomesrs587784059
hgdprs587784059
ensemblrs587784059
gopubmedrs587784059
geneviewrs587784059
scholarrs587784059
googlers587784059
pharmgkbrs587784059
gwascentralrs587784059
openSNPrs587784059
23andMers587784059
23andMe allrs587784059
SNP Nexus

SNPshotrs587784059
SNPdbers587784059
MSV3drs587784059
GWAS Ctlgrs587784059
Max Magnitude0
ClinVar
Risk rs587784059(A;A)
Alt rs587784059(A;A)
Reference rs587784059(G;G)
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.36975877G>A
CLNSRC
CLNACC RCV000146745.1,