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rs587784027

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784027(A;A)
Make rs587784027(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37049302
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784027
ebirs587784027
HLIrs587784027
Exacrs587784027
Varsomers587784027
Maprs587784027
PheGenIrs587784027
hapmaprs587784027
1000 genomesrs587784027
hgdprs587784027
ensemblrs587784027
gopubmedrs587784027
geneviewrs587784027
scholarrs587784027
googlers587784027
pharmgkbrs587784027
gwascentralrs587784027
openSNPrs587784027
23andMers587784027
23andMe allrs587784027
SNP Nexus

SNPshotrs587784027
SNPdbers587784027
MSV3drs587784027
GWAS Ctlgrs587784027
Max Magnitude0
ClinVar
Risk rs587784027(A;A)
Alt rs587784027(A;A)
Reference rs587784027(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.37049404G>A
CLNSRC
CLNACC RCV000146708.1,