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

rs587783966

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783966(A;T)
Make rs587783966(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37020876
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783966
ebirs587783966
HLIrs587783966
Exacrs587783966
Varsomers587783966
Maprs587783966
PheGenIrs587783966
hapmaprs587783966
1000 genomesrs587783966
hgdprs587783966
ensemblrs587783966
gopubmedrs587783966
geneviewrs587783966
scholarrs587783966
googlers587783966
pharmgkbrs587783966
gwascentralrs587783966
openSNPrs587783966
23andMers587783966
23andMe allrs587783966
SNP Nexus

SNPshotrs587783966
SNPdbers587783966
MSV3drs587783966
GWAS Ctlgrs587783966
Max Magnitude0
ClinVar
Risk rs587783966(T;T)
Alt rs587783966(T;T)
Reference rs587783966(A;A)
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.37020978A>T
CLNSRC
CLNACC RCV000146633.1,