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rs797045769

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045769(C;T)
Make rs797045769(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37020492
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045769
ebirs797045769
HLIrs797045769
Exacrs797045769
Varsomers797045769
Maprs797045769
PheGenIrs797045769
hapmaprs797045769
1000 genomesrs797045769
hgdprs797045769
ensemblrs797045769
gopubmedrs797045769
geneviewrs797045769
scholarrs797045769
googlers797045769
pharmgkbrs797045769
gwascentralrs797045769
openSNPrs797045769
23andMers797045769
23andMe allrs797045769
SNP Nexus

SNPshotrs797045769
SNPdbers797045769
MSV3drs797045769
GWAS Ctlgrs797045769
Max Magnitude0
ClinVar
Risk rs797045769(T;T)
Alt rs797045769(T;T)
Reference rs797045769(C;C)
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.37020594C>T
CLNSRC
CLNACC RCV000193538.1,