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rs80358384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358384(A;G)
Make rs80358384(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37057223
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358384
ebirs80358384
HLIrs80358384
Exacrs80358384
Varsomers80358384
Maprs80358384
PheGenIrs80358384
hapmaprs80358384
1000 genomesrs80358384
hgdprs80358384
ensemblrs80358384
gopubmedrs80358384
geneviewrs80358384
scholarrs80358384
googlers80358384
pharmgkbrs80358384
gwascentralrs80358384
openSNPrs80358384
23andMers80358384
23andMe allrs80358384
SNP Nexus

SNPshotrs80358384
SNPdbers80358384
MSV3drs80358384
GWAS Ctlgrs80358384
Max Magnitude0
ClinVar
Risk rs80358384(G;G)
Alt rs80358384(G;G)
Reference rs80358384(A;A)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37057325A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000086389.4,