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rs797045752

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045752(C;T)
Make rs797045752(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36985701
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045752
ebirs797045752
HLIrs797045752
Exacrs797045752
Varsomers797045752
Maprs797045752
PheGenIrs797045752
hapmaprs797045752
1000 genomesrs797045752
hgdprs797045752
ensemblrs797045752
gopubmedrs797045752
geneviewrs797045752
scholarrs797045752
googlers797045752
pharmgkbrs797045752
gwascentralrs797045752
openSNPrs797045752
23andMers797045752
23andMe allrs797045752
SNP Nexus

SNPshotrs797045752
SNPdbers797045752
MSV3drs797045752
GWAS Ctlgrs797045752
Max Magnitude0
ClinVar
Risk rs797045752(T;T)
Alt rs797045752(T;T)
Reference rs797045752(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.36985803C>T
CLNSRC
CLNACC RCV000192908.1,