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rs797045754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045754(-;A)
Make rs797045754(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36986145
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045754
ClinGenrs797045754
ebirs797045754
HLIrs797045754
Exacrs797045754
Varsomers797045754
Maprs797045754
PheGenIrs797045754
hapmaprs797045754
1000 genomesrs797045754
hgdprs797045754
ensemblrs797045754
gopubmedrs797045754
geneviewrs797045754
scholarrs797045754
googlers797045754
pharmgkbrs797045754
gwascentralrs797045754
openSNPrs797045754
23andMers797045754
23andMe allrs797045754
SNP Nexus

SNPshotrs797045754
SNPdbers797045754
MSV3drs797045754
GWAS Ctlgrs797045754
Max Magnitude0
ClinVar
Risk rs797045754(A;A)
Alt rs797045754(A;A)
Reference Rs797045754(-;-)
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.36986247dupA
CLNSRC
CLNACC RCV000194589.1,