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rs587784015

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784015(A;T)
Make rs587784015(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37046181
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784015
ebirs587784015
HLIrs587784015
Exacrs587784015
Varsomers587784015
Maprs587784015
PheGenIrs587784015
hapmaprs587784015
1000 genomesrs587784015
hgdprs587784015
ensemblrs587784015
gopubmedrs587784015
geneviewrs587784015
scholarrs587784015
googlers587784015
pharmgkbrs587784015
gwascentralrs587784015
openSNPrs587784015
23andMers587784015
23andMe allrs587784015
SNP Nexus

SNPshotrs587784015
SNPdbers587784015
MSV3drs587784015
GWAS Ctlgrs587784015
Max Magnitude0
ClinVar
Risk rs587784015(T;T)
Alt rs587784015(T;T)
Reference rs587784015(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.37046283A>T
CLNSRC
CLNACC RCV000146693.1,