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rs587784005

From SNPedia

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Geno Mag Summary
(TGTG;TGTG) 0 common in clinvar
Make rs587784005(-;-)
Make rs587784005(-;TGTG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37044703
GeneNIPBL
is asnp
is mentioned by
dbSNPrs587784005
ebirs587784005
HLIrs587784005
Exacrs587784005
Varsomers587784005
Maprs587784005
PheGenIrs587784005
hapmaprs587784005
1000 genomesrs587784005
hgdprs587784005
ensemblrs587784005
gopubmedrs587784005
geneviewrs587784005
scholarrs587784005
googlers587784005
pharmgkbrs587784005
gwascentralrs587784005
openSNPrs587784005
23andMers587784005
23andMe allrs587784005
SNP Nexus

SNPshotrs587784005
SNPdbers587784005
MSV3drs587784005
GWAS Ctlgrs587784005
Max Magnitude0
ClinVar
Risk rs587784005(;)
Alt rs587784005(;)
Reference rs587784005(TGTG;TGTG)
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.37044805_37044808delTGTG
CLNSRC
CLNACC RCV000146680.1,