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rs797045775

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045775(C;C)
Make rs797045775(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37038740
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045775
ebirs797045775
HLIrs797045775
Exacrs797045775
Varsomers797045775
Maprs797045775
PheGenIrs797045775
hapmaprs797045775
1000 genomesrs797045775
hgdprs797045775
ensemblrs797045775
gopubmedrs797045775
geneviewrs797045775
scholarrs797045775
googlers797045775
pharmgkbrs797045775
gwascentralrs797045775
openSNPrs797045775
23andMers797045775
23andMe allrs797045775
SNP Nexus

SNPshotrs797045775
SNPdbers797045775
MSV3drs797045775
GWAS Ctlgrs797045775
Max Magnitude0
ClinVar
Risk rs797045775(C;C)
Alt rs797045775(C;C)
Reference rs797045775(T;T)
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.37038842T>C
CLNSRC
CLNACC RCV000194053.1,