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rs587784065

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784065(C;T)
Make rs587784065(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975829
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784065
ebirs587784065
HLIrs587784065
Exacrs587784065
Varsomers587784065
Maprs587784065
PheGenIrs587784065
hapmaprs587784065
1000 genomesrs587784065
hgdprs587784065
ensemblrs587784065
gopubmedrs587784065
geneviewrs587784065
scholarrs587784065
googlers587784065
pharmgkbrs587784065
gwascentralrs587784065
openSNPrs587784065
23andMers587784065
23andMe allrs587784065
SNP Nexus

SNPshotrs587784065
SNPdbers587784065
MSV3drs587784065
GWAS Ctlgrs587784065
Max Magnitude0
ClinVar
Risk rs587784065(T;T)
Alt rs587784065(T;T)
Reference rs587784065(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.36975931C>T
CLNSRC
CLNACC RCV000146751.1,