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rs587783914

From SNPedia

Orientationplus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs587783914(-;-)
Make rs587783914(-;AGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36986240
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783914
ebirs587783914
HLIrs587783914
Exacrs587783914
Varsomers587783914
Maprs587783914
PheGenIrs587783914
hapmaprs587783914
1000 genomesrs587783914
hgdprs587783914
ensemblrs587783914
gopubmedrs587783914
geneviewrs587783914
scholarrs587783914
googlers587783914
pharmgkbrs587783914
gwascentralrs587783914
openSNPrs587783914
23andMers587783914
23andMe allrs587783914
SNP Nexus

SNPshotrs587783914
SNPdbers587783914
MSV3drs587783914
GWAS Ctlgrs587783914
Max Magnitude0
ClinVar
Risk rs587783914(;)
Alt rs587783914(;)
Reference rs587783914(AGAG;AGAG)
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.36986342_36986345delAGAG
CLNSRC
CLNACC RCV000146563.1,