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rs80358374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358374(C;T)
Make rs80358374(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37000513
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358374
ebirs80358374
HLIrs80358374
Exacrs80358374
Varsomers80358374
Maprs80358374
PheGenIrs80358374
hapmaprs80358374
1000 genomesrs80358374
hgdprs80358374
ensemblrs80358374
gopubmedrs80358374
geneviewrs80358374
scholarrs80358374
googlers80358374
pharmgkbrs80358374
gwascentralrs80358374
openSNPrs80358374
23andMers80358374
23andMe allrs80358374
SNP Nexus

SNPshotrs80358374
SNPdbers80358374
MSV3drs80358374
GWAS Ctlgrs80358374
Max Magnitude0
ClinVar
Risk rs80358374(T;T)
Alt rs80358374(T;T)
Reference rs80358374(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.37000615C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000086375.2,