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rs80358362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358362(C;T)
Make rs80358362(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37022256
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358362
ebirs80358362
HLIrs80358362
Exacrs80358362
Varsomers80358362
Maprs80358362
PheGenIrs80358362
hapmaprs80358362
1000 genomesrs80358362
hgdprs80358362
ensemblrs80358362
gopubmedrs80358362
geneviewrs80358362
scholarrs80358362
googlers80358362
pharmgkbrs80358362
gwascentralrs80358362
openSNPrs80358362
23andMers80358362
23andMe allrs80358362
SNP Nexus

SNPshotrs80358362
SNPdbers80358362
MSV3drs80358362
GWAS Ctlgrs80358362
Max Magnitude0
ClinVar
Risk rs80358362(T;T)
Alt rs80358362(T;T)
Reference rs80358362(C;C)
Significance Pathogenic
Disease not provided Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN not provided Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37022358C>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000082493.3, RCV000086382.4,