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rs587784026

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784026(C;T)
Make rs587784026(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37049299
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784026
ebirs587784026
HLIrs587784026
Exacrs587784026
Varsomers587784026
Maprs587784026
PheGenIrs587784026
hapmaprs587784026
1000 genomesrs587784026
hgdprs587784026
ensemblrs587784026
gopubmedrs587784026
geneviewrs587784026
scholarrs587784026
googlers587784026
pharmgkbrs587784026
gwascentralrs587784026
openSNPrs587784026
23andMers587784026
23andMe allrs587784026
SNP Nexus

SNPshotrs587784026
SNPdbers587784026
MSV3drs587784026
GWAS Ctlgrs587784026
Max Magnitude0
ClinVar
Risk rs587784026(T;T)
Alt rs587784026(T;T)
Reference rs587784026(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.37049401C>T
CLNSRC
CLNACC RCV000146707.1,