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rs80358371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(CTA;CTA) 0 common in clinvar
Make rs80358371(-;-)
Make rs80358371(-;T)
Make rs80358371(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position37060964
GeneNIPBL
is asnp
is mentioned by
dbSNPrs80358371
ebirs80358371
HLIrs80358371
Exacrs80358371
Varsomers80358371
Maprs80358371
PheGenIrs80358371
hapmaprs80358371
1000 genomesrs80358371
hgdprs80358371
ensemblrs80358371
gopubmedrs80358371
geneviewrs80358371
scholarrs80358371
googlers80358371
pharmgkbrs80358371
gwascentralrs80358371
openSNPrs80358371
23andMers80358371
23andMe allrs80358371
SNP Nexus

SNPshotrs80358371
SNPdbers80358371
MSV3drs80358371
GWAS Ctlgrs80358371
Max Magnitude0
ClinVar
Risk rs80358371(T;T)
Alt rs80358371(T;T)
Reference rs80358371(CTA;CTA)
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.37061066dupT
CLNSRC ClinVar
CLNACC RCV000086393.2,