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rs80358372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs80358372(-;-)
Make rs80358372(-;GA)
ReferenceGRCh38 38.1/141
Chromosome5
Position37017048
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358372
ebirs80358372
HLIrs80358372
Exacrs80358372
Varsomers80358372
Maprs80358372
PheGenIrs80358372
hapmaprs80358372
1000 genomesrs80358372
hgdprs80358372
ensemblrs80358372
gopubmedrs80358372
geneviewrs80358372
scholarrs80358372
googlers80358372
pharmgkbrs80358372
gwascentralrs80358372
openSNPrs80358372
23andMers80358372
23andMe allrs80358372
SNP Nexus

SNPshotrs80358372
SNPdbers80358372
MSV3drs80358372
GWAS Ctlgrs80358372
Max Magnitude0
ClinVar
Risk rs80358372(;)
Alt rs80358372(;)
Reference rs80358372(AG;AG)
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.37017150_37017151delGA
CLNSRC ClinVar University of Chicago
CLNACC RCV000086380.3,