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rs797045766

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045766(-;A)
Make rs797045766(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37017135
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045766
ClinGenrs797045766
ebirs797045766
HLIrs797045766
Exacrs797045766
Varsomers797045766
Maprs797045766
PheGenIrs797045766
hapmaprs797045766
1000 genomesrs797045766
hgdprs797045766
ensemblrs797045766
gopubmedrs797045766
geneviewrs797045766
scholarrs797045766
googlers797045766
pharmgkbrs797045766
gwascentralrs797045766
openSNPrs797045766
23andMers797045766
23andMe allrs797045766
SNP Nexus

SNPshotrs797045766
SNPdbers797045766
MSV3drs797045766
GWAS Ctlgrs797045766
Max Magnitude0
ClinVar
Risk rs797045766(A;A)
Alt rs797045766(A;A)
Reference Rs797045766(-;-)
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.37017237dupA
CLNSRC
CLNACC RCV000193602.1,