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rs797045787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045787(-;CT)
Make rs797045787(CT;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37064753
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs797045787
ClinGenrs797045787
ebirs797045787
HLIrs797045787
Exacrs797045787
Varsomers797045787
Maprs797045787
PheGenIrs797045787
hapmaprs797045787
1000 genomesrs797045787
hgdprs797045787
ensemblrs797045787
gopubmedrs797045787
geneviewrs797045787
scholarrs797045787
googlers797045787
pharmgkbrs797045787
gwascentralrs797045787
openSNPrs797045787
23andMers797045787
23andMe allrs797045787
SNP Nexus

SNPshotrs797045787
SNPdbers797045787
MSV3drs797045787
GWAS Ctlgrs797045787
Max Magnitude0
ClinVar
Risk rs797045787(CT;CT)
Alt rs797045787(CT;CT)
Reference Rs797045787(-;-)
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.37064854_37064855dupCT
CLNSRC
CLNACC RCV000192755.1,