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rs587783879

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783879(A;T)
Make rs587783879(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975964
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783879
ebirs587783879
HLIrs587783879
Exacrs587783879
Varsomers587783879
Maprs587783879
PheGenIrs587783879
hapmaprs587783879
1000 genomesrs587783879
hgdprs587783879
ensemblrs587783879
gopubmedrs587783879
geneviewrs587783879
scholarrs587783879
googlers587783879
pharmgkbrs587783879
gwascentralrs587783879
openSNPrs587783879
23andMers587783879
23andMe allrs587783879
SNP Nexus

SNPshotrs587783879
SNPdbers587783879
MSV3drs587783879
GWAS Ctlgrs587783879
Max Magnitude0
ClinVar
Risk rs587783879(T;T)
Alt rs587783879(T;T)
Reference rs587783879(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.36976066A>T
CLNSRC
CLNACC RCV000146512.1,