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rs794727556

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727556(G;G)
Make rs794727556(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37026329
GeneNIPBL
is asnp
is mentioned by
dbSNPrs794727556
ebirs794727556
HLIrs794727556
Exacrs794727556
Varsomers794727556
Maprs794727556
PheGenIrs794727556
hapmaprs794727556
1000 genomesrs794727556
hgdprs794727556
ensemblrs794727556
gopubmedrs794727556
geneviewrs794727556
scholarrs794727556
googlers794727556
pharmgkbrs794727556
gwascentralrs794727556
openSNPrs794727556
23andMers794727556
23andMe allrs794727556
SNP Nexus

SNPshotrs794727556
SNPdbers794727556
MSV3drs794727556
GWAS Ctlgrs794727556
Max Magnitude0
ClinVar
Risk rs794727556(G;G)
Alt rs794727556(G;G)
Reference rs794727556(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.37026431T>G
CLNSRC
CLNACC RCV000177577.1,