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rs587783880

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587783880(-;-)
Make rs587783880(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975993
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783880
ebirs587783880
HLIrs587783880
Exacrs587783880
Varsomers587783880
Maprs587783880
PheGenIrs587783880
hapmaprs587783880
1000 genomesrs587783880
hgdprs587783880
ensemblrs587783880
gopubmedrs587783880
geneviewrs587783880
scholarrs587783880
googlers587783880
pharmgkbrs587783880
gwascentralrs587783880
openSNPrs587783880
23andMers587783880
23andMe allrs587783880
SNP Nexus

SNPshotrs587783880
SNPdbers587783880
MSV3drs587783880
GWAS Ctlgrs587783880
Max Magnitude0
ClinVar
Risk rs587783880(;)
Alt rs587783880(;)
Reference rs587783880(TT;TT)
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.36976095_36976096delTT
CLNSRC
CLNACC RCV000146513.1,