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rs797045745

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045745(-;T)
Make rs797045745(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36976053
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045745
ClinGenrs797045745
ebirs797045745
HLIrs797045745
Exacrs797045745
Varsomers797045745
Maprs797045745
PheGenIrs797045745
hapmaprs797045745
1000 genomesrs797045745
hgdprs797045745
ensemblrs797045745
gopubmedrs797045745
geneviewrs797045745
scholarrs797045745
googlers797045745
pharmgkbrs797045745
gwascentralrs797045745
openSNPrs797045745
23andMers797045745
23andMe allrs797045745
SNP Nexus

SNPshotrs797045745
SNPdbers797045745
MSV3drs797045745
GWAS Ctlgrs797045745
Max Magnitude0
ClinVar
Risk rs797045745(T;T)
Alt rs797045745(T;T)
Reference Rs797045745(;)
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.36976155dupT
CLNSRC
CLNACC RCV000192354.1,