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rs80358380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358380(A;A)
Make rs80358380(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37022088
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358380
ebirs80358380
HLIrs80358380
Exacrs80358380
Varsomers80358380
Maprs80358380
PheGenIrs80358380
hapmaprs80358380
1000 genomesrs80358380
hgdprs80358380
ensemblrs80358380
gopubmedrs80358380
geneviewrs80358380
scholarrs80358380
googlers80358380
pharmgkbrs80358380
gwascentralrs80358380
openSNPrs80358380
23andMers80358380
23andMe allrs80358380
SNP Nexus

SNPshotrs80358380
SNPdbers80358380
MSV3drs80358380
GWAS Ctlgrs80358380
Max Magnitude0
ClinVar
Risk rs80358380(A;A)
Alt rs80358380(A;A)
Reference rs80358380(G;G)
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.37022190G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000086381.4,