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rs80358356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358356(A;A)
Make rs80358356(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position36995809
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358356
ebirs80358356
HLIrs80358356
Exacrs80358356
Varsomers80358356
Maprs80358356
PheGenIrs80358356
hapmaprs80358356
1000 genomesrs80358356
hgdprs80358356
ensemblrs80358356
gopubmedrs80358356
geneviewrs80358356
scholarrs80358356
googlers80358356
pharmgkbrs80358356
gwascentralrs80358356
openSNPrs80358356
23andMers80358356
23andMe allrs80358356
SNP Nexus

SNPshotrs80358356
SNPdbers80358356
MSV3drs80358356
GWAS Ctlgrs80358356
Max Magnitude0
ClinVar
Risk rs80358356(A;A)
Alt rs80358356(A;A)
Reference rs80358356(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.36995911G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000146569.1,