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rs797045773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs797045773(-;-)
Make rs797045773(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37026258
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045773
ClinGenrs797045773
ebirs797045773
HLIrs797045773
Exacrs797045773
Varsomers797045773
Maprs797045773
PheGenIrs797045773
hapmaprs797045773
1000 genomesrs797045773
hgdprs797045773
ensemblrs797045773
gopubmedrs797045773
geneviewrs797045773
scholarrs797045773
googlers797045773
pharmgkbrs797045773
gwascentralrs797045773
openSNPrs797045773
23andMers797045773
23andMe allrs797045773
SNP Nexus

SNPshotrs797045773
SNPdbers797045773
MSV3drs797045773
GWAS Ctlgrs797045773
Max Magnitude0
ClinVar
Risk rs797045773(-;-)
Alt rs797045773(-;-)
Reference Rs797045773(CT;CT)
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.37026360_37026361delCT
CLNSRC
CLNACC RCV000194706.1,