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rs80358367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358367(C;T)
Make rs80358367(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position36955540
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358367
ebirs80358367
HLIrs80358367
Exacrs80358367
Varsomers80358367
Maprs80358367
PheGenIrs80358367
hapmaprs80358367
1000 genomesrs80358367
hgdprs80358367
ensemblrs80358367
gopubmedrs80358367
geneviewrs80358367
scholarrs80358367
googlers80358367
pharmgkbrs80358367
gwascentralrs80358367
openSNPrs80358367
23andMers80358367
23andMe allrs80358367
SNP Nexus

SNPshotrs80358367
SNPdbers80358367
MSV3drs80358367
GWAS Ctlgrs80358367
Max Magnitude0
ClinVar
Risk rs80358367(T;T)
Alt rs80358367(T;T)
Reference rs80358367(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.36955642C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000086366.3,