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rs797045762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs797045762(-;-)
Make rs797045762(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37010197
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045762
ClinGenrs797045762
ebirs797045762
HLIrs797045762
Exacrs797045762
Varsomers797045762
Maprs797045762
PheGenIrs797045762
hapmaprs797045762
1000 genomesrs797045762
hgdprs797045762
ensemblrs797045762
gopubmedrs797045762
geneviewrs797045762
scholarrs797045762
googlers797045762
pharmgkbrs797045762
gwascentralrs797045762
openSNPrs797045762
23andMers797045762
23andMe allrs797045762
SNP Nexus

SNPshotrs797045762
SNPdbers797045762
MSV3drs797045762
GWAS Ctlgrs797045762
Max Magnitude0
ClinVar
Risk rs797045762(-;-)
Alt rs797045762(-;-)
Reference Rs797045762(CT;CT)
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.37010299_37010300delCT
CLNSRC
CLNACC RCV000192461.1,