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rs587783898

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783898(-;-)
Make rs587783898(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985288
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783898
ebirs587783898
HLIrs587783898
Exacrs587783898
Varsomers587783898
Maprs587783898
PheGenIrs587783898
hapmaprs587783898
1000 genomesrs587783898
hgdprs587783898
ensemblrs587783898
gopubmedrs587783898
geneviewrs587783898
scholarrs587783898
googlers587783898
pharmgkbrs587783898
gwascentralrs587783898
openSNPrs587783898
23andMers587783898
23andMe allrs587783898
SNP Nexus

SNPshotrs587783898
SNPdbers587783898
MSV3drs587783898
GWAS Ctlgrs587783898
Max Magnitude0
ClinVar
Risk rs587783898(;)
Alt rs587783898(;)
Reference rs587783898(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.36985390delC
CLNSRC
CLNACC RCV000146537.1,