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rs80358364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358364(-;-)
Make rs80358364(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position36955599
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358364
ebirs80358364
HLIrs80358364
Exacrs80358364
Varsomers80358364
Maprs80358364
PheGenIrs80358364
hapmaprs80358364
1000 genomesrs80358364
hgdprs80358364
ensemblrs80358364
gopubmedrs80358364
geneviewrs80358364
scholarrs80358364
googlers80358364
pharmgkbrs80358364
gwascentralrs80358364
openSNPrs80358364
23andMers80358364
23andMe allrs80358364
SNP Nexus

SNPshotrs80358364
SNPdbers80358364
MSV3drs80358364
GWAS Ctlgrs80358364
Max Magnitude0
ClinVar
Risk rs80358364(;)
Alt rs80358364(;)
Reference rs80358364(G;G)
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.36955701delG
CLNSRC ClinVar University of Chicago
CLNACC RCV000086369.3,