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rs80358378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358378(A;A)
Make rs80358378(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position37003352
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358378
ebirs80358378
HLIrs80358378
Exacrs80358378
Varsomers80358378
Maprs80358378
PheGenIrs80358378
hapmaprs80358378
1000 genomesrs80358378
hgdprs80358378
ensemblrs80358378
gopubmedrs80358378
geneviewrs80358378
scholarrs80358378
googlers80358378
pharmgkbrs80358378
gwascentralrs80358378
openSNPrs80358378
23andMers80358378
23andMe allrs80358378
SNP Nexus

SNPshotrs80358378
SNPdbers80358378
MSV3drs80358378
GWAS Ctlgrs80358378
Max Magnitude0
ClinVar
Risk rs80358378(A;A)
Alt rs80358378(A;A)
Reference rs80358378(G;G)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37003454G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000146591.1,