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rs587784033

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784033(C;T)
Make rs587784033(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37052405
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784033
ebirs587784033
HLIrs587784033
Exacrs587784033
Varsomers587784033
Maprs587784033
PheGenIrs587784033
hapmaprs587784033
1000 genomesrs587784033
hgdprs587784033
ensemblrs587784033
gopubmedrs587784033
geneviewrs587784033
scholarrs587784033
googlers587784033
pharmgkbrs587784033
gwascentralrs587784033
openSNPrs587784033
23andMers587784033
23andMe allrs587784033
SNP Nexus

SNPshotrs587784033
SNPdbers587784033
MSV3drs587784033
GWAS Ctlgrs587784033
Max Magnitude0
ClinVar
Risk rs587784033(T;T)
Alt rs587784033(T;T)
Reference rs587784033(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.37052507C>T
CLNSRC
CLNACC RCV000146714.1,