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rs587784032

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784032(C;C)
Make rs587784032(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37051888
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784032
ebirs587784032
HLIrs587784032
Exacrs587784032
Varsomers587784032
Maprs587784032
PheGenIrs587784032
hapmaprs587784032
1000 genomesrs587784032
hgdprs587784032
ensemblrs587784032
gopubmedrs587784032
geneviewrs587784032
scholarrs587784032
googlers587784032
pharmgkbrs587784032
gwascentralrs587784032
openSNPrs587784032
23andMers587784032
23andMe allrs587784032
SNP Nexus

SNPshotrs587784032
SNPdbers587784032
MSV3drs587784032
GWAS Ctlgrs587784032
Max Magnitude0
ClinVar
Risk rs587784032(C;C)
Alt rs587784032(C;C)
Reference rs587784032(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.37051990T>C
CLNSRC
CLNACC RCV000146713.1,