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rs587784023

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784023(A;T)
Make rs587784023(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048619
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784023
ebirs587784023
HLIrs587784023
Exacrs587784023
Varsomers587784023
Maprs587784023
PheGenIrs587784023
hapmaprs587784023
1000 genomesrs587784023
hgdprs587784023
ensemblrs587784023
gopubmedrs587784023
geneviewrs587784023
scholarrs587784023
googlers587784023
pharmgkbrs587784023
gwascentralrs587784023
openSNPrs587784023
23andMers587784023
23andMe allrs587784023
SNP Nexus

SNPshotrs587784023
SNPdbers587784023
MSV3drs587784023
GWAS Ctlgrs587784023
Max Magnitude0
ClinVar
Risk rs587784023(T;T)
Alt rs587784023(T;T)
Reference rs587784023(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.37048721A>T
CLNSRC
CLNACC RCV000146702.1,