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rs80358360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358360(C;G)
Make rs80358360(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position36962249
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358360
ebirs80358360
HLIrs80358360
Exacrs80358360
Varsomers80358360
Maprs80358360
PheGenIrs80358360
hapmaprs80358360
1000 genomesrs80358360
hgdprs80358360
ensemblrs80358360
gopubmedrs80358360
geneviewrs80358360
scholarrs80358360
googlers80358360
pharmgkbrs80358360
gwascentralrs80358360
openSNPrs80358360
23andMers80358360
23andMe allrs80358360
SNP Nexus

SNPshotrs80358360
SNPdbers80358360
MSV3drs80358360
GWAS Ctlgrs80358360
Max Magnitude0
ClinVar
Risk rs80358360(G;G)
Alt rs80358360(G;G)
Reference rs80358360(C;C)
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.36962351C>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000086385.2,