Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783918

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783918(A;G)
Make rs587783918(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36995620
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783918
ebirs587783918
HLIrs587783918
Exacrs587783918
Varsomers587783918
Maprs587783918
PheGenIrs587783918
hapmaprs587783918
1000 genomesrs587783918
hgdprs587783918
ensemblrs587783918
gopubmedrs587783918
geneviewrs587783918
scholarrs587783918
googlers587783918
pharmgkbrs587783918
gwascentralrs587783918
openSNPrs587783918
23andMers587783918
23andMe allrs587783918
SNP Nexus

SNPshotrs587783918
SNPdbers587783918
MSV3drs587783918
GWAS Ctlgrs587783918
Max Magnitude0
ClinVar
Risk rs587783918(G;G)
Alt rs587783918(G;G)
Reference rs587783918(A;A)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.36995722A>G
CLNSRC
CLNACC RCV000146568.1,