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rs80358363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358363(G;T)
Make rs80358363(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37048543
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358363
ebirs80358363
HLIrs80358363
Exacrs80358363
Varsomers80358363
Maprs80358363
PheGenIrs80358363
hapmaprs80358363
1000 genomesrs80358363
hgdprs80358363
ensemblrs80358363
gopubmedrs80358363
geneviewrs80358363
scholarrs80358363
googlers80358363
pharmgkbrs80358363
gwascentralrs80358363
openSNPrs80358363
23andMers80358363
23andMe allrs80358363
SNP Nexus

SNPshotrs80358363
SNPdbers80358363
MSV3drs80358363
GWAS Ctlgrs80358363
Max Magnitude0
ClinVar
Risk rs80358363(T;T)
Alt rs80358363(T;T)
Reference rs80358363(G;G)
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.37048645G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000086386.2,