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

rs587783889

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783889(C;T)
Make rs587783889(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36984756
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783889
ebirs587783889
HLIrs587783889
Exacrs587783889
Varsomers587783889
Maprs587783889
PheGenIrs587783889
hapmaprs587783889
1000 genomesrs587783889
hgdprs587783889
ensemblrs587783889
gopubmedrs587783889
geneviewrs587783889
scholarrs587783889
googlers587783889
pharmgkbrs587783889
gwascentralrs587783889
openSNPrs587783889
23andMers587783889
23andMe allrs587783889
SNP Nexus

SNPshotrs587783889
SNPdbers587783889
MSV3drs587783889
GWAS Ctlgrs587783889
Max Magnitude0
ClinVar
Risk rs587783889(T;T)
Alt rs587783889(T;T)
Reference rs587783889(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.36984858C>T
CLNSRC
CLNACC RCV000146524.1,