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rs587783891

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783891(-;-)
Make rs587783891(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36984933
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783891
ebirs587783891
HLIrs587783891
Exacrs587783891
Varsomers587783891
Maprs587783891
PheGenIrs587783891
hapmaprs587783891
1000 genomesrs587783891
hgdprs587783891
ensemblrs587783891
gopubmedrs587783891
geneviewrs587783891
scholarrs587783891
googlers587783891
pharmgkbrs587783891
gwascentralrs587783891
openSNPrs587783891
23andMers587783891
23andMe allrs587783891
SNP Nexus

SNPshotrs587783891
SNPdbers587783891
MSV3drs587783891
GWAS Ctlgrs587783891
Max Magnitude0
ClinVar
Risk rs587783891(;)
Alt rs587783891(;)
Reference rs587783891(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.36985035delA
CLNSRC
CLNACC RCV000146526.1,