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rs587783884

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783884(C;T)
Make rs587783884(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36976279
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783884
ebirs587783884
HLIrs587783884
Exacrs587783884
Varsomers587783884
Maprs587783884
PheGenIrs587783884
hapmaprs587783884
1000 genomesrs587783884
hgdprs587783884
ensemblrs587783884
gopubmedrs587783884
geneviewrs587783884
scholarrs587783884
googlers587783884
pharmgkbrs587783884
gwascentralrs587783884
openSNPrs587783884
23andMers587783884
23andMe allrs587783884
SNP Nexus

SNPshotrs587783884
SNPdbers587783884
MSV3drs587783884
GWAS Ctlgrs587783884
Max Magnitude0
ClinVar
Risk rs587783884(T;T)
Alt rs587783884(T;T)
Reference rs587783884(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.36976381C>T
CLNSRC
CLNACC RCV000146518.1,