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rs80358373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358373(A;G)
Make rs80358373(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position37022382
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358373
ebirs80358373
HLIrs80358373
Exacrs80358373
Varsomers80358373
Maprs80358373
PheGenIrs80358373
hapmaprs80358373
1000 genomesrs80358373
hgdprs80358373
ensemblrs80358373
gopubmedrs80358373
geneviewrs80358373
scholarrs80358373
googlers80358373
pharmgkbrs80358373
gwascentralrs80358373
openSNPrs80358373
23andMers80358373
23andMe allrs80358373
SNP Nexus

SNPshotrs80358373
SNPdbers80358373
MSV3drs80358373
GWAS Ctlgrs80358373
Max Magnitude0
ClinVar
Risk rs80358373(G;G)
Alt rs80358373(G;G)
Reference rs80358373(A;A)
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.37022484A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000086384.4,