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rs80358370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358370(C;T)
Make rs80358370(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37057249
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358370
ebirs80358370
HLIrs80358370
Exacrs80358370
Varsomers80358370
Maprs80358370
PheGenIrs80358370
hapmaprs80358370
1000 genomesrs80358370
hgdprs80358370
ensemblrs80358370
gopubmedrs80358370
geneviewrs80358370
scholarrs80358370
googlers80358370
pharmgkbrs80358370
gwascentralrs80358370
openSNPrs80358370
23andMers80358370
23andMe allrs80358370
SNP Nexus

SNPshotrs80358370
SNPdbers80358370
MSV3drs80358370
GWAS Ctlgrs80358370
Max Magnitude0
ClinVar
Risk rs80358370(T;T)
Alt rs80358370(T;T)
Reference rs80358370(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.37057351C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000086390.2,