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rs80358368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358368(-;-)
Make rs80358368(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position37060947
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358368
ebirs80358368
HLIrs80358368
Exacrs80358368
Varsomers80358368
Maprs80358368
PheGenIrs80358368
hapmaprs80358368
1000 genomesrs80358368
hgdprs80358368
ensemblrs80358368
gopubmedrs80358368
geneviewrs80358368
scholarrs80358368
googlers80358368
pharmgkbrs80358368
gwascentralrs80358368
openSNPrs80358368
23andMers80358368
23andMe allrs80358368
SNP Nexus

SNPshotrs80358368
SNPdbers80358368
MSV3drs80358368
GWAS Ctlgrs80358368
Max Magnitude0
ClinVar
Risk rs80358368(;)
Alt rs80358368(;)
Reference rs80358368(C;C)
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.37061049delC
CLNSRC ClinVar University of Chicago
CLNACC RCV000086392.3,