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rs587783987

From SNPedia

Orientationplus
Geno Mag Summary
(TTG;TTG) 0 common in clinvar
Make rs587783987(-;-)
Make rs587783987(-;TTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37036440
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783987
ebirs587783987
HLIrs587783987
Exacrs587783987
Varsomers587783987
Maprs587783987
PheGenIrs587783987
hapmaprs587783987
1000 genomesrs587783987
hgdprs587783987
ensemblrs587783987
gopubmedrs587783987
geneviewrs587783987
scholarrs587783987
googlers587783987
pharmgkbrs587783987
gwascentralrs587783987
openSNPrs587783987
23andMers587783987
23andMe allrs587783987
SNP Nexus

SNPshotrs587783987
SNPdbers587783987
MSV3drs587783987
GWAS Ctlgrs587783987
Max Magnitude0
ClinVar
Risk rs587783987(;)
Alt rs587783987(;)
Reference rs587783987(TTG;TTG)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37036542_37036544delTTG
CLNSRC
CLNACC RCV000146658.1,