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rs587784062

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784062(C;T)
Make rs587784062(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975799
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784062
ebirs587784062
HLIrs587784062
Exacrs587784062
Varsomers587784062
Maprs587784062
PheGenIrs587784062
hapmaprs587784062
1000 genomesrs587784062
hgdprs587784062
ensemblrs587784062
gopubmedrs587784062
geneviewrs587784062
scholarrs587784062
googlers587784062
pharmgkbrs587784062
gwascentralrs587784062
openSNPrs587784062
23andMers587784062
23andMe allrs587784062
SNP Nexus

SNPshotrs587784062
SNPdbers587784062
MSV3drs587784062
GWAS Ctlgrs587784062
Max Magnitude0
ClinVar
Risk rs587784062(T;T)
Alt rs587784062(T;T)
Reference rs587784062(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.36975901C>T
CLNSRC
CLNACC RCV000146748.1,