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rs587784013

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784013(C;T)
Make rs587784013(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37046175
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784013
ebirs587784013
HLIrs587784013
Exacrs587784013
Varsomers587784013
Maprs587784013
PheGenIrs587784013
hapmaprs587784013
1000 genomesrs587784013
hgdprs587784013
ensemblrs587784013
gopubmedrs587784013
geneviewrs587784013
scholarrs587784013
googlers587784013
pharmgkbrs587784013
gwascentralrs587784013
openSNPrs587784013
23andMers587784013
23andMe allrs587784013
SNP Nexus

SNPshotrs587784013
SNPdbers587784013
MSV3drs587784013
GWAS Ctlgrs587784013
Max Magnitude0
ClinVar
Risk rs587784013(T;T)
Alt rs587784013(T;T)
Reference rs587784013(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.37046277C>T
CLNSRC
CLNACC RCV000146691.1,