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rs797045760

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045760(C;T)
Make rs797045760(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37010160
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045760
ebirs797045760
HLIrs797045760
Exacrs797045760
Varsomers797045760
Maprs797045760
PheGenIrs797045760
hapmaprs797045760
1000 genomesrs797045760
hgdprs797045760
ensemblrs797045760
gopubmedrs797045760
geneviewrs797045760
scholarrs797045760
googlers797045760
pharmgkbrs797045760
gwascentralrs797045760
openSNPrs797045760
23andMers797045760
23andMe allrs797045760
SNP Nexus

SNPshotrs797045760
SNPdbers797045760
MSV3drs797045760
GWAS Ctlgrs797045760
Max Magnitude0
ClinVar
Risk rs797045760(T;T)
Alt rs797045760(T;T)
Reference rs797045760(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.37010262C>T
CLNSRC
CLNACC RCV000193404.1,