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rs587783882

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783882(C;T)
Make rs587783882(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36976090
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783882
ebirs587783882
HLIrs587783882
Exacrs587783882
Varsomers587783882
Maprs587783882
PheGenIrs587783882
hapmaprs587783882
1000 genomesrs587783882
hgdprs587783882
ensemblrs587783882
gopubmedrs587783882
geneviewrs587783882
scholarrs587783882
googlers587783882
pharmgkbrs587783882
gwascentralrs587783882
openSNPrs587783882
23andMers587783882
23andMe allrs587783882
SNP Nexus

SNPshotrs587783882
SNPdbers587783882
MSV3drs587783882
GWAS Ctlgrs587783882
Max Magnitude0
ClinVar
Risk rs587783882(T;T)
Alt rs587783882(T;T)
Reference rs587783882(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.36976192C>T
CLNSRC
CLNACC RCV000146516.1,