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rs797045789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTAATAA;CTAATAA) 0 common in clinvar
Make rs797045789(ATT;ATT)
Make rs797045789(ATT;CTAATAA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37064819
GeneC5orf42, NIPBL
is asnp
is mentioned by
dbSNPrs797045789
dbSNP (old)rs797045789
ClinGenrs797045789
ebirs797045789
HLIrs797045789
Exacrs797045789
Varsomers797045789
Maprs797045789
PheGenIrs797045789
Biobankrs797045789
1000 genomesrs797045789
hgdprs797045789
ensemblrs797045789
gopubmedrs797045789
geneviewrs797045789
scholarrs797045789
googlers797045789
pharmgkbrs797045789
gwascentralrs797045789
openSNPrs797045789
23andMers797045789
23andMe allrs797045789
SNP Nexus

SNPshotrs797045789
SNPdbers797045789
MSV3drs797045789
GWAS Ctlgrs797045789
Max Magnitude0
ClinVar
Risk rs797045789(ATT;ATT)
Alt rs797045789(ATT;ATT)
Reference Rs797045789(CTAATAA;CTAATAA)
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.37064921_37064927delCTAATAAinsATT
CLNSRC
CLNACC RCV000194810.1,