Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045783

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045783(-;A)
Make rs797045783(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37060974
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045783
ClinGenrs797045783
ebirs797045783
HLIrs797045783
Exacrs797045783
Varsomers797045783
Maprs797045783
PheGenIrs797045783
hapmaprs797045783
1000 genomesrs797045783
hgdprs797045783
ensemblrs797045783
gopubmedrs797045783
geneviewrs797045783
scholarrs797045783
googlers797045783
pharmgkbrs797045783
gwascentralrs797045783
openSNPrs797045783
23andMers797045783
23andMe allrs797045783
SNP Nexus

SNPshotrs797045783
SNPdbers797045783
MSV3drs797045783
GWAS Ctlgrs797045783
Max Magnitude0
ClinVar
Risk rs797045783(A;A)
Alt rs797045783(A;A)
Reference Rs797045783(;)
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.37061076dupA
CLNSRC
CLNACC RCV000194236.1,