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rs797045750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045750(-;TGAA)
Make rs797045750(TGAA;TGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36985577
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045750
dbSNP (old)rs797045750
ClinGenrs797045750
ebirs797045750
HLIrs797045750
Exacrs797045750
Gnomadrs797045750
Varsomers797045750
Maprs797045750
PheGenIrs797045750
Biobankrs797045750
1000 genomesrs797045750
hgdprs797045750
ensemblrs797045750
gopubmedrs797045750
geneviewrs797045750
scholarrs797045750
googlers797045750
pharmgkbrs797045750
gwascentralrs797045750
openSNPrs797045750
23andMers797045750
23andMe allrs797045750
SNP Nexus

SNPshotrs797045750
SNPdbers797045750
MSV3drs797045750
GWAS Ctlgrs797045750
Max Magnitude0
ClinVar
Risk rs797045750(TGAA;TGAA)
Alt rs797045750(TGAA;TGAA)
Reference Rs797045750(-;-)
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.36985676_36985679dupTGAA
CLNSRC
CLNACC RCV000193424.1,