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rs797045785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045785(-;G)
Make rs797045785(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37063841
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045785
ClinGenrs797045785
ebirs797045785
HLIrs797045785
Exacrs797045785
Varsomers797045785
Maprs797045785
PheGenIrs797045785
hapmaprs797045785
1000 genomesrs797045785
hgdprs797045785
ensemblrs797045785
gopubmedrs797045785
geneviewrs797045785
scholarrs797045785
googlers797045785
pharmgkbrs797045785
gwascentralrs797045785
openSNPrs797045785
23andMers797045785
23andMe allrs797045785
SNP Nexus

SNPshotrs797045785
SNPdbers797045785
MSV3drs797045785
GWAS Ctlgrs797045785
Max Magnitude0
ClinVar
Risk rs797045785(G;G)
Alt rs797045785(G;G)
Reference Rs797045785(-;-)
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.37063943dupG
CLNSRC
CLNACC RCV000193652.1,