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rs587784010

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784010(A;C)
Make rs587784010(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36953763
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784010
ebirs587784010
HLIrs587784010
Exacrs587784010
Varsomers587784010
Maprs587784010
PheGenIrs587784010
hapmaprs587784010
1000 genomesrs587784010
hgdprs587784010
ensemblrs587784010
gopubmedrs587784010
geneviewrs587784010
scholarrs587784010
googlers587784010
pharmgkbrs587784010
gwascentralrs587784010
openSNPrs587784010
23andMers587784010
23andMe allrs587784010
SNP Nexus

SNPshotrs587784010
SNPdbers587784010
MSV3drs587784010
GWAS Ctlgrs587784010
Max Magnitude0
ClinVar
Risk rs587784010(C;C)
Alt rs587784010(C;C)
Reference rs587784010(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.36953865A>C
CLNSRC
CLNACC RCV000146686.1,