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rs587783878

From SNPedia

Orientationplus
Geno Mag Summary
(ATGT;ATGT) 0 common in clinvar
Make rs587783878(-;-)
Make rs587783878(-;TATG)
Make rs587783878(TATG;TATG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position36975940
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587783878
ebirs587783878
HLIrs587783878
Exacrs587783878
Varsomers587783878
Maprs587783878
PheGenIrs587783878
hapmaprs587783878
1000 genomesrs587783878
hgdprs587783878
ensemblrs587783878
gopubmedrs587783878
geneviewrs587783878
scholarrs587783878
googlers587783878
pharmgkbrs587783878
gwascentralrs587783878
openSNPrs587783878
23andMers587783878
23andMe allrs587783878
SNP Nexus

SNPshotrs587783878
SNPdbers587783878
MSV3drs587783878
GWAS Ctlgrs587783878
Max Magnitude0
ClinVar
Risk rs587783878(;)
Alt rs587783878(;)
Reference rs587783878(ATGT;ATGT)
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.36976042_36976045delTATG
CLNSRC
CLNACC RCV000146510.1,