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

rs587784038

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784038(G;G)
Make rs587784038(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37057180
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784038
ebirs587784038
HLIrs587784038
Exacrs587784038
Varsomers587784038
Maprs587784038
PheGenIrs587784038
hapmaprs587784038
1000 genomesrs587784038
hgdprs587784038
ensemblrs587784038
gopubmedrs587784038
geneviewrs587784038
scholarrs587784038
googlers587784038
pharmgkbrs587784038
gwascentralrs587784038
openSNPrs587784038
23andMers587784038
23andMe allrs587784038
SNP Nexus

SNPshotrs587784038
SNPdbers587784038
MSV3drs587784038
GWAS Ctlgrs587784038
Max Magnitude0
ClinVar
Risk rs587784038(G;G)
Alt rs587784038(G;G)
Reference rs587784038(T;T)
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.37057282T>G
CLNSRC
CLNACC RCV000146720.1,