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rs80358361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AATCTAT;AATCTAT) 0 common in clinvar
(ATCTATA;ATCTATA) 0 common in clinvar
Make rs80358361(-;-)
Make rs80358361(-;ATCTATA)
ReferenceGRCh38 38.1/141
Chromosome5
Position37048553
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358361
ebirs80358361
HLIrs80358361
Exacrs80358361
Varsomers80358361
Maprs80358361
PheGenIrs80358361
hapmaprs80358361
1000 genomesrs80358361
hgdprs80358361
ensemblrs80358361
gopubmedrs80358361
geneviewrs80358361
scholarrs80358361
googlers80358361
pharmgkbrs80358361
gwascentralrs80358361
openSNPrs80358361
23andMers80358361
23andMe allrs80358361
SNP Nexus

SNPshotrs80358361
SNPdbers80358361
MSV3drs80358361
GWAS Ctlgrs80358361
Max Magnitude0
ClinVar
Risk rs80358361(;)
Alt rs80358361(;)
Reference rs80358361(AATCTAT;AATCTAT)
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.37048655_37048661delATCTATA
CLNSRC ClinVar University of Chicago
CLNACC RCV000086387.3,