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rs587783959

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783959(-;-)
Make rs587783959(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37017060
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783959
ebirs587783959
HLIrs587783959
Exacrs587783959
Varsomers587783959
Maprs587783959
PheGenIrs587783959
hapmaprs587783959
1000 genomesrs587783959
hgdprs587783959
ensemblrs587783959
gopubmedrs587783959
geneviewrs587783959
scholarrs587783959
googlers587783959
pharmgkbrs587783959
gwascentralrs587783959
openSNPrs587783959
23andMers587783959
23andMe allrs587783959
SNP Nexus

SNPshotrs587783959
SNPdbers587783959
MSV3drs587783959
GWAS Ctlgrs587783959
Max Magnitude0
ClinVar
Risk rs587783959(;)
Alt rs587783959(;)
Reference rs587783959(AG;AG)
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.37017162_37017163delAG
CLNSRC
CLNACC RCV000146624.1,