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rs587783926

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783926(C;G)
Make rs587783926(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37000986
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783926
ebirs587783926
HLIrs587783926
Exacrs587783926
Varsomers587783926
Maprs587783926
PheGenIrs587783926
hapmaprs587783926
1000 genomesrs587783926
hgdprs587783926
ensemblrs587783926
gopubmedrs587783926
geneviewrs587783926
scholarrs587783926
googlers587783926
pharmgkbrs587783926
gwascentralrs587783926
openSNPrs587783926
23andMers587783926
23andMe allrs587783926
SNP Nexus

SNPshotrs587783926
SNPdbers587783926
MSV3drs587783926
GWAS Ctlgrs587783926
Max Magnitude0
ClinVar
Risk rs587783926(G;G)
Alt rs587783926(G;G)
Reference rs587783926(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.37001088C>G
CLNSRC
CLNACC RCV000146581.1,