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rs797045753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045753(-;G)
Make rs797045753(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36958159
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045753
dbSNP (old)rs797045753
ClinGenrs797045753
ebirs797045753
HLIrs797045753
Exacrs797045753
Gnomadrs797045753
Varsomers797045753
Maprs797045753
PheGenIrs797045753
Biobankrs797045753
1000 genomesrs797045753
hgdprs797045753
ensemblrs797045753
gopubmedrs797045753
geneviewrs797045753
scholarrs797045753
googlers797045753
pharmgkbrs797045753
gwascentralrs797045753
openSNPrs797045753
23andMers797045753
23andMe allrs797045753
SNP Nexus

SNPshotrs797045753
SNPdbers797045753
MSV3drs797045753
GWAS Ctlgrs797045753
Max Magnitude0
ClinVar
Risk rs797045753(G;G)
Alt rs797045753(G;G)
Reference Rs797045753(-;-)
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.36958261_36958262insG
CLNSRC
CLNACC RCV000194119.1,