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rs587783911

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783911(A;A)
Make rs587783911(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36986012
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783911
ebirs587783911
HLIrs587783911
Exacrs587783911
Varsomers587783911
Maprs587783911
PheGenIrs587783911
hapmaprs587783911
1000 genomesrs587783911
hgdprs587783911
ensemblrs587783911
gopubmedrs587783911
geneviewrs587783911
scholarrs587783911
googlers587783911
pharmgkbrs587783911
gwascentralrs587783911
openSNPrs587783911
23andMers587783911
23andMe allrs587783911
SNP Nexus

SNPshotrs587783911
SNPdbers587783911
MSV3drs587783911
GWAS Ctlgrs587783911
Max Magnitude0
ClinVar
Risk rs587783911(A;A)
Alt rs587783911(A;A)
Reference rs587783911(T;T)
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.36986114T>A
CLNSRC
CLNACC RCV000146558.1,