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rs587784017

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784017(A;A)
Make rs587784017(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37048502
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784017
ebirs587784017
HLIrs587784017
Exacrs587784017
Varsomers587784017
Maprs587784017
PheGenIrs587784017
hapmaprs587784017
1000 genomesrs587784017
hgdprs587784017
ensemblrs587784017
gopubmedrs587784017
geneviewrs587784017
scholarrs587784017
googlers587784017
pharmgkbrs587784017
gwascentralrs587784017
openSNPrs587784017
23andMers587784017
23andMe allrs587784017
SNP Nexus

SNPshotrs587784017
SNPdbers587784017
MSV3drs587784017
GWAS Ctlgrs587784017
Max Magnitude0
ClinVar
Risk rs587784017(A;A)
Alt rs587784017(A;A)
Reference rs587784017(G;G)
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.37048604G>A
CLNSRC
CLNACC RCV000146696.1,