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rs797045776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045776(-;T)
Make rs797045776(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37044489
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045776
dbSNP (old)rs797045776
ClinGenrs797045776
ebirs797045776
HLIrs797045776
Exacrs797045776
Gnomadrs797045776
Varsomers797045776
Maprs797045776
PheGenIrs797045776
Biobankrs797045776
1000 genomesrs797045776
hgdprs797045776
ensemblrs797045776
gopubmedrs797045776
geneviewrs797045776
scholarrs797045776
googlers797045776
pharmgkbrs797045776
gwascentralrs797045776
openSNPrs797045776
23andMers797045776
23andMe allrs797045776
SNP Nexus

SNPshotrs797045776
SNPdbers797045776
MSV3drs797045776
GWAS Ctlgrs797045776
Max Magnitude0
ClinVar
Risk rs797045776(T;T)
Alt rs797045776(T;T)
Reference Rs797045776(-;-)
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.37044591dupT
CLNSRC
CLNACC RCV000194935.1,