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

rs587783892

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783892(C;T)
Make rs587783892(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985065
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783892
ebirs587783892
HLIrs587783892
Exacrs587783892
Varsomers587783892
Maprs587783892
PheGenIrs587783892
hapmaprs587783892
1000 genomesrs587783892
hgdprs587783892
ensemblrs587783892
gopubmedrs587783892
geneviewrs587783892
scholarrs587783892
googlers587783892
pharmgkbrs587783892
gwascentralrs587783892
openSNPrs587783892
23andMers587783892
23andMe allrs587783892
SNP Nexus

SNPshotrs587783892
SNPdbers587783892
MSV3drs587783892
GWAS Ctlgrs587783892
Max Magnitude0
ClinVar
Risk rs587783892(T;T)
Alt rs587783892(T;T)
Reference rs587783892(C;C)
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.36985167C>T
CLNSRC
CLNACC RCV000146527.1,