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rs797045771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045771(-;T)
Make rs797045771(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37024590
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045771
ClinGenrs797045771
ebirs797045771
HLIrs797045771
Exacrs797045771
Varsomers797045771
Maprs797045771
PheGenIrs797045771
hapmaprs797045771
1000 genomesrs797045771
hgdprs797045771
ensemblrs797045771
gopubmedrs797045771
geneviewrs797045771
scholarrs797045771
googlers797045771
pharmgkbrs797045771
gwascentralrs797045771
openSNPrs797045771
23andMers797045771
23andMe allrs797045771
SNP Nexus

SNPshotrs797045771
SNPdbers797045771
MSV3drs797045771
GWAS Ctlgrs797045771
Max Magnitude0
ClinVar
Risk rs797045771(T;T)
Alt rs797045771(T;T)
Reference Rs797045771(-;-)
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.37024692dupT
CLNSRC
CLNACC RCV000193008.1,