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rs797045779

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045779(G;G)
Make rs797045779(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37049147
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045779
ebirs797045779
HLIrs797045779
Exacrs797045779
Varsomers797045779
Maprs797045779
PheGenIrs797045779
hapmaprs797045779
1000 genomesrs797045779
hgdprs797045779
ensemblrs797045779
gopubmedrs797045779
geneviewrs797045779
scholarrs797045779
googlers797045779
pharmgkbrs797045779
gwascentralrs797045779
openSNPrs797045779
23andMers797045779
23andMe allrs797045779
SNP Nexus

SNPshotrs797045779
SNPdbers797045779
MSV3drs797045779
GWAS Ctlgrs797045779
Max Magnitude0
ClinVar
Risk rs797045779(G;G)
Alt rs797045779(G;G)
Reference rs797045779(T;T)
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.37049249T>G
CLNSRC
CLNACC RCV000192628.1,