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

rs587783936

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783936(G;T)
Make rs587783936(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37006375
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783936
ebirs587783936
HLIrs587783936
Exacrs587783936
Varsomers587783936
Maprs587783936
PheGenIrs587783936
hapmaprs587783936
1000 genomesrs587783936
hgdprs587783936
ensemblrs587783936
gopubmedrs587783936
geneviewrs587783936
scholarrs587783936
googlers587783936
pharmgkbrs587783936
gwascentralrs587783936
openSNPrs587783936
23andMers587783936
23andMe allrs587783936
SNP Nexus

SNPshotrs587783936
SNPdbers587783936
MSV3drs587783936
GWAS Ctlgrs587783936
Max Magnitude0
ClinVar
Risk rs587783936(T;T)
Alt rs587783936(T;T)
Reference rs587783936(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.37006477G>T
CLNSRC
CLNACC RCV000146595.1,