Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045772

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045772(-;T)
Make rs797045772(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37024689
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045772
ClinGenrs797045772
ebirs797045772
HLIrs797045772
Exacrs797045772
Varsomers797045772
Maprs797045772
PheGenIrs797045772
hapmaprs797045772
1000 genomesrs797045772
hgdprs797045772
ensemblrs797045772
gopubmedrs797045772
geneviewrs797045772
scholarrs797045772
googlers797045772
pharmgkbrs797045772
gwascentralrs797045772
openSNPrs797045772
23andMers797045772
23andMe allrs797045772
SNP Nexus

SNPshotrs797045772
SNPdbers797045772
MSV3drs797045772
GWAS Ctlgrs797045772
Max Magnitude0
ClinVar
Risk rs797045772(T;T)
Alt rs797045772(T;T)
Reference Rs797045772(;)
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.37024791dupT
CLNSRC
CLNACC RCV000193856.1,