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rs797045761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045761(-;A)
Make rs797045761(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37010194
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045761
dbSNP (old)rs797045761
ClinGenrs797045761
ebirs797045761
HLIrs797045761
Exacrs797045761
Gnomadrs797045761
Varsomers797045761
Maprs797045761
PheGenIrs797045761
Biobankrs797045761
1000 genomesrs797045761
hgdprs797045761
ensemblrs797045761
gopubmedrs797045761
geneviewrs797045761
scholarrs797045761
googlers797045761
pharmgkbrs797045761
gwascentralrs797045761
openSNPrs797045761
23andMers797045761
23andMe allrs797045761
SNP Nexus

SNPshotrs797045761
SNPdbers797045761
MSV3drs797045761
GWAS Ctlgrs797045761
Max Magnitude0
ClinVar
Risk rs797045761(A;A)
Alt rs797045761(A;A)
Reference Rs797045761(-;-)
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.37010296dupA
CLNSRC
CLNACC RCV000194257.1,