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rs587783877

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783877(-;-)
Make rs587783877(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975910
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783877
ebirs587783877
HLIrs587783877
Exacrs587783877
Varsomers587783877
Maprs587783877
PheGenIrs587783877
hapmaprs587783877
1000 genomesrs587783877
hgdprs587783877
ensemblrs587783877
gopubmedrs587783877
geneviewrs587783877
scholarrs587783877
googlers587783877
pharmgkbrs587783877
gwascentralrs587783877
openSNPrs587783877
23andMers587783877
23andMe allrs587783877
SNP Nexus

SNPshotrs587783877
SNPdbers587783877
MSV3drs587783877
GWAS Ctlgrs587783877
Max Magnitude0
ClinVar
Risk rs587783877(;)
Alt rs587783877(;)
Reference rs587783877(G;G)
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.36976012delG
CLNSRC
CLNACC RCV000146509.1,