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rs80358386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGTGAACTA;CAGTGAACTA) 0 common in clinvar
(GAACTACAGT;GAACTACAGT) 0 common in clinvar
Make rs80358386(-;-)
Make rs80358386(-;GAACTACAGT)
ReferenceGRCh38 38.1/141
Chromosome5
Position37008053
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358386
ebirs80358386
HLIrs80358386
Exacrs80358386
Varsomers80358386
Maprs80358386
PheGenIrs80358386
hapmaprs80358386
1000 genomesrs80358386
hgdprs80358386
ensemblrs80358386
gopubmedrs80358386
geneviewrs80358386
scholarrs80358386
googlers80358386
pharmgkbrs80358386
gwascentralrs80358386
openSNPrs80358386
23andMers80358386
23andMe allrs80358386
SNP Nexus

SNPshotrs80358386
SNPdbers80358386
MSV3drs80358386
GWAS Ctlgrs80358386
Max Magnitude0
ClinVar
Risk rs80358386(;)
Alt rs80358386(;)
Reference rs80358386(CAGTGAACTA;CAGTGAACTA)
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.37008155_37008164delGAACTACAGT
CLNSRC ClinVar University of Chicago
CLNACC RCV000086377.3,