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rs797045758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045758(-;T)
Make rs797045758(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37008090
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045758
dbSNP (old)rs797045758
ClinGenrs797045758
ebirs797045758
HLIrs797045758
Exacrs797045758
Gnomadrs797045758
Varsomers797045758
Maprs797045758
PheGenIrs797045758
Biobankrs797045758
1000 genomesrs797045758
hgdprs797045758
ensemblrs797045758
gopubmedrs797045758
geneviewrs797045758
scholarrs797045758
googlers797045758
pharmgkbrs797045758
gwascentralrs797045758
openSNPrs797045758
23andMers797045758
23andMe allrs797045758
SNP Nexus

SNPshotrs797045758
SNPdbers797045758
MSV3drs797045758
GWAS Ctlgrs797045758
Max Magnitude0
ClinVar
Risk rs797045758(T;T)
Alt rs797045758(T;T)
Reference Rs797045758(-;-)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37008192dupT
CLNSRC
CLNACC RCV000193944.1,