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

rs587783896

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783896(C;G)
Make rs587783896(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36985273
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783896
ebirs587783896
HLIrs587783896
Exacrs587783896
Varsomers587783896
Maprs587783896
PheGenIrs587783896
hapmaprs587783896
1000 genomesrs587783896
hgdprs587783896
ensemblrs587783896
gopubmedrs587783896
geneviewrs587783896
scholarrs587783896
googlers587783896
pharmgkbrs587783896
gwascentralrs587783896
openSNPrs587783896
23andMers587783896
23andMe allrs587783896
SNP Nexus

SNPshotrs587783896
SNPdbers587783896
MSV3drs587783896
GWAS Ctlgrs587783896
Max Magnitude0
ClinVar
Risk rs587783896(G;G)
Alt rs587783896(G;G)
Reference rs587783896(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.36985375C>G
CLNSRC
CLNACC RCV000146535.1,