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rs797045763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045763(-;GT)
Make rs797045763(GT;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36961585
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045763
dbSNP (old)rs797045763
ClinGenrs797045763
ebirs797045763
HLIrs797045763
Exacrs797045763
Gnomadrs797045763
Varsomers797045763
Maprs797045763
PheGenIrs797045763
Biobankrs797045763
1000 genomesrs797045763
hgdprs797045763
ensemblrs797045763
gopubmedrs797045763
geneviewrs797045763
scholarrs797045763
googlers797045763
pharmgkbrs797045763
gwascentralrs797045763
openSNPrs797045763
23andMers797045763
23andMe allrs797045763
SNP Nexus

SNPshotrs797045763
SNPdbers797045763
MSV3drs797045763
GWAS Ctlgrs797045763
Max Magnitude0
ClinVar
Risk rs797045763(GT;GT)
Alt rs797045763(GT;GT)
Reference Rs797045763(-;-)
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.36961686_36961687dupGT
CLNSRC
CLNACC RCV000193348.1,