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rs80358382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
(GAGA;GAGA) 0 common in clinvar
Make rs80358382(-;-)
Make rs80358382(-;GAGA)
ReferenceGRCh38 38.1/141
Chromosome5
Position36976352
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358382
ebirs80358382
HLIrs80358382
Exacrs80358382
Varsomers80358382
Maprs80358382
PheGenIrs80358382
hapmaprs80358382
1000 genomesrs80358382
hgdprs80358382
ensemblrs80358382
gopubmedrs80358382
geneviewrs80358382
scholarrs80358382
googlers80358382
pharmgkbrs80358382
gwascentralrs80358382
openSNPrs80358382
23andMers80358382
23andMe allrs80358382
SNP Nexus

SNPshotrs80358382
SNPdbers80358382
MSV3drs80358382
GWAS Ctlgrs80358382
Max Magnitude0
ClinVar
Risk rs80358382(;)
Alt rs80358382(;)
Reference rs80358382(AGAG;AGAG)
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.36976454_36976457delGAGA
CLNSRC ClinVar University of Chicago
CLNACC RCV000086367.3,