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rs797045780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045780(-;T)
Make rs797045780(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37049158
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045780
dbSNP (old)rs797045780
ClinGenrs797045780
ebirs797045780
HLIrs797045780
Exacrs797045780
Gnomadrs797045780
Varsomers797045780
Maprs797045780
PheGenIrs797045780
Biobankrs797045780
1000 genomesrs797045780
hgdprs797045780
ensemblrs797045780
gopubmedrs797045780
geneviewrs797045780
scholarrs797045780
googlers797045780
pharmgkbrs797045780
gwascentralrs797045780
openSNPrs797045780
23andMers797045780
23andMe allrs797045780
SNP Nexus

SNPshotrs797045780
SNPdbers797045780
MSV3drs797045780
GWAS Ctlgrs797045780
Max Magnitude0
ClinVar
Risk rs797045780(T;T)
Alt rs797045780(T;T)
Reference Rs797045780(-;-)
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.37049260dupT
CLNSRC
CLNACC RCV000193077.1,