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

rs797045764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045764(-;CCTGTCAACTAACATGT)
Make rs797045764(CCTGTCAACTAACATGT;CCTGTCAACTAACATGT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37014702
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045764
dbSNP (old)rs797045764
ClinGenrs797045764
ebirs797045764
HLIrs797045764
Exacrs797045764
Varsomers797045764
Maprs797045764
PheGenIrs797045764
Biobankrs797045764
1000 genomesrs797045764
hgdprs797045764
ensemblrs797045764
gopubmedrs797045764
geneviewrs797045764
scholarrs797045764
googlers797045764
pharmgkbrs797045764
gwascentralrs797045764
openSNPrs797045764
23andMers797045764
23andMe allrs797045764
SNP Nexus

SNPshotrs797045764
SNPdbers797045764
MSV3drs797045764
GWAS Ctlgrs797045764
Max Magnitude0
ClinVar
Risk rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Alt rs797045764(TCCTGTCAACTAACATG;TCCTGTCAACTAACATG)
Reference Rs797045764(-;-)
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.37014804_37014805insCCTGTCAACTAACATGT
CLNSRC
CLNACC RCV000194191.1,