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rs797045748

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045748(-;C)
Make rs797045748(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36985172
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045748
ClinGenrs797045748
ebirs797045748
HLIrs797045748
Exacrs797045748
Varsomers797045748
Maprs797045748
PheGenIrs797045748
hapmaprs797045748
1000 genomesrs797045748
hgdprs797045748
ensemblrs797045748
gopubmedrs797045748
geneviewrs797045748
scholarrs797045748
googlers797045748
pharmgkbrs797045748
gwascentralrs797045748
openSNPrs797045748
23andMers797045748
23andMe allrs797045748
SNP Nexus

SNPshotrs797045748
SNPdbers797045748
MSV3drs797045748
GWAS Ctlgrs797045748
Max Magnitude0
ClinVar
Risk rs797045748(C;C)
Alt rs797045748(C;C)
Reference Rs797045748(;)
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.36985274dupC
CLNSRC
CLNACC RCV000194718.1,