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

rs587783932

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783932(G;G)
Make rs587783932(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37003310
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783932
ebirs587783932
HLIrs587783932
Exacrs587783932
Varsomers587783932
Maprs587783932
PheGenIrs587783932
hapmaprs587783932
1000 genomesrs587783932
hgdprs587783932
ensemblrs587783932
gopubmedrs587783932
geneviewrs587783932
scholarrs587783932
googlers587783932
pharmgkbrs587783932
gwascentralrs587783932
openSNPrs587783932
23andMers587783932
23andMe allrs587783932
SNP Nexus

SNPshotrs587783932
SNPdbers587783932
MSV3drs587783932
GWAS Ctlgrs587783932
Max Magnitude0
ClinVar
Risk rs587783932(G;G)
Alt rs587783932(G;G)
Reference rs587783932(T;T)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37003412T>G
CLNSRC
CLNACC RCV000146588.1,