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rs587784042

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784042(A;G)
Make rs587784042(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36971002
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784042
ebirs587784042
HLIrs587784042
Exacrs587784042
Varsomers587784042
Maprs587784042
PheGenIrs587784042
hapmaprs587784042
1000 genomesrs587784042
hgdprs587784042
ensemblrs587784042
gopubmedrs587784042
geneviewrs587784042
scholarrs587784042
googlers587784042
pharmgkbrs587784042
gwascentralrs587784042
openSNPrs587784042
23andMers587784042
23andMe allrs587784042
SNP Nexus

SNPshotrs587784042
SNPdbers587784042
MSV3drs587784042
GWAS Ctlgrs587784042
Max Magnitude0
ClinVar
Risk rs587784042(G;G)
Alt rs587784042(G;G)
Reference rs587784042(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.36971104A>G
CLNSRC
CLNACC RCV000146724.1,