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rs80358375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358375(G;T)
Make rs80358375(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position37000372
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358375
ebirs80358375
HLIrs80358375
Exacrs80358375
Varsomers80358375
Maprs80358375
PheGenIrs80358375
hapmaprs80358375
1000 genomesrs80358375
hgdprs80358375
ensemblrs80358375
gopubmedrs80358375
geneviewrs80358375
scholarrs80358375
googlers80358375
pharmgkbrs80358375
gwascentralrs80358375
openSNPrs80358375
23andMers80358375
23andMe allrs80358375
SNP Nexus

SNPshotrs80358375
SNPdbers80358375
MSV3drs80358375
GWAS Ctlgrs80358375
Max Magnitude0
ClinVar
Risk rs80358375(T;T)
Alt rs80358375(T;T)
Reference rs80358375(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.37000474G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000146570.1,