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rs587784016

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784016(A;C)
Make rs587784016(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048500
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784016
ebirs587784016
HLIrs587784016
Exacrs587784016
Varsomers587784016
Maprs587784016
PheGenIrs587784016
hapmaprs587784016
1000 genomesrs587784016
hgdprs587784016
ensemblrs587784016
gopubmedrs587784016
geneviewrs587784016
scholarrs587784016
googlers587784016
pharmgkbrs587784016
gwascentralrs587784016
openSNPrs587784016
23andMers587784016
23andMe allrs587784016
SNP Nexus

SNPshotrs587784016
SNPdbers587784016
MSV3drs587784016
GWAS Ctlgrs587784016
Max Magnitude0
ClinVar
Risk rs587784016(C;C)
Alt rs587784016(C;C)
Reference rs587784016(A;A)
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.37048602A>C
CLNSRC
CLNACC RCV000146695.1,