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rs587784050

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784050(C;T)
Make rs587784050(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37061007
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784050
ebirs587784050
HLIrs587784050
Exacrs587784050
Varsomers587784050
Maprs587784050
PheGenIrs587784050
hapmaprs587784050
1000 genomesrs587784050
hgdprs587784050
ensemblrs587784050
gopubmedrs587784050
geneviewrs587784050
scholarrs587784050
googlers587784050
pharmgkbrs587784050
gwascentralrs587784050
openSNPrs587784050
23andMers587784050
23andMe allrs587784050
SNP Nexus

SNPshotrs587784050
SNPdbers587784050
MSV3drs587784050
GWAS Ctlgrs587784050
Max Magnitude0
ClinVar
Risk rs587784050(T;T)
Alt rs587784050(T;T)
Reference Rs587784050(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.37061109C>T
CLNSRC
CLNACC RCV000146735.1,