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rs587783912

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783912(-;-)
Make rs587783912(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36986083
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783912
ebirs587783912
HLIrs587783912
Exacrs587783912
Varsomers587783912
Maprs587783912
PheGenIrs587783912
hapmaprs587783912
1000 genomesrs587783912
hgdprs587783912
ensemblrs587783912
gopubmedrs587783912
geneviewrs587783912
scholarrs587783912
googlers587783912
pharmgkbrs587783912
gwascentralrs587783912
openSNPrs587783912
23andMers587783912
23andMe allrs587783912
SNP Nexus

SNPshotrs587783912
SNPdbers587783912
MSV3drs587783912
GWAS Ctlgrs587783912
Max Magnitude0
ClinVar
Risk rs587783912(;)
Alt rs587783912(;)
Reference rs587783912(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.36986185delA
CLNSRC
CLNACC RCV000146560.1,