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rs587784060

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784060(-;-)
Make rs587784060(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36955493
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784060
ebirs587784060
HLIrs587784060
Exacrs587784060
Varsomers587784060
Maprs587784060
PheGenIrs587784060
hapmaprs587784060
1000 genomesrs587784060
hgdprs587784060
ensemblrs587784060
gopubmedrs587784060
geneviewrs587784060
scholarrs587784060
googlers587784060
pharmgkbrs587784060
gwascentralrs587784060
openSNPrs587784060
23andMers587784060
23andMe allrs587784060
SNP Nexus

SNPshotrs587784060
SNPdbers587784060
MSV3drs587784060
GWAS Ctlgrs587784060
Max Magnitude0
ClinVar
Risk rs587784060(;)
Alt rs587784060(;)
Reference rs587784060(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.36955595delC
CLNSRC
CLNACC RCV000146746.1,