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rs80358369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358369(A;A)
Make rs80358369(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37010176
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358369
ebirs80358369
HLIrs80358369
Exacrs80358369
Varsomers80358369
Maprs80358369
PheGenIrs80358369
hapmaprs80358369
1000 genomesrs80358369
hgdprs80358369
ensemblrs80358369
gopubmedrs80358369
geneviewrs80358369
scholarrs80358369
googlers80358369
pharmgkbrs80358369
gwascentralrs80358369
openSNPrs80358369
23andMers80358369
23andMe allrs80358369
SNP Nexus

SNPshotrs80358369
SNPdbers80358369
MSV3drs80358369
GWAS Ctlgrs80358369
Max Magnitude0
ClinVar
Risk rs80358369(A;A)
Alt rs80358369(A;A)
Reference rs80358369(T;T)
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.37010278T>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000086379.2,