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rs80358366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358366(A;A)
Make rs80358366(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37022272
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358366
ebirs80358366
HLIrs80358366
Exacrs80358366
Varsomers80358366
Maprs80358366
PheGenIrs80358366
hapmaprs80358366
1000 genomesrs80358366
hgdprs80358366
ensemblrs80358366
gopubmedrs80358366
geneviewrs80358366
scholarrs80358366
googlers80358366
pharmgkbrs80358366
gwascentralrs80358366
openSNPrs80358366
23andMers80358366
23andMe allrs80358366
SNP Nexus

SNPshotrs80358366
SNPdbers80358366
MSV3drs80358366
GWAS Ctlgrs80358366
Max Magnitude0
ClinVar
Risk rs80358366(A;A)
Alt rs80358366(A;A)
Reference rs80358366(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.37022374G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000086383.4,