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rs587784036

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784036(A;A)
Make rs587784036(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37052471
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784036
ebirs587784036
HLIrs587784036
Exacrs587784036
Varsomers587784036
Maprs587784036
PheGenIrs587784036
hapmaprs587784036
1000 genomesrs587784036
hgdprs587784036
ensemblrs587784036
gopubmedrs587784036
geneviewrs587784036
scholarrs587784036
googlers587784036
pharmgkbrs587784036
gwascentralrs587784036
openSNPrs587784036
23andMers587784036
23andMe allrs587784036
SNP Nexus

SNPshotrs587784036
SNPdbers587784036
MSV3drs587784036
GWAS Ctlgrs587784036
Max Magnitude0
ClinVar
Risk rs587784036(A;A)
Alt rs587784036(A;A)
Reference rs587784036(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.37052573G>A
CLNSRC
CLNACC RCV000146717.1,