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rs80358376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358376(C;G)
Make rs80358376(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37049239
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358376
ebirs80358376
HLIrs80358376
Exacrs80358376
Varsomers80358376
Maprs80358376
PheGenIrs80358376
hapmaprs80358376
1000 genomesrs80358376
hgdprs80358376
ensemblrs80358376
gopubmedrs80358376
geneviewrs80358376
scholarrs80358376
googlers80358376
pharmgkbrs80358376
gwascentralrs80358376
openSNPrs80358376
23andMers80358376
23andMe allrs80358376
SNP Nexus

SNPshotrs80358376
SNPdbers80358376
MSV3drs80358376
GWAS Ctlgrs80358376
Max Magnitude0
ClinVar
Risk rs80358376(G,T;G,T)
Alt rs80358376(G,T;G,T)
Reference rs80358376(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.37049341C>G; NC_000005.9:g.37049341C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000086388.2, RCV000146704.1,