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rs797045757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTT;TTT) 0 common in clinvar
Make rs797045757(-;-)
Make rs797045757(-;TTT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37006350
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045757
dbSNP (old)rs797045757
ClinGenrs797045757
ebirs797045757
HLIrs797045757
Exacrs797045757
Varsomers797045757
Maprs797045757
PheGenIrs797045757
Biobankrs797045757
1000 genomesrs797045757
hgdprs797045757
ensemblrs797045757
gopubmedrs797045757
geneviewrs797045757
scholarrs797045757
googlers797045757
pharmgkbrs797045757
gwascentralrs797045757
openSNPrs797045757
23andMers797045757
23andMe allrs797045757
SNP Nexus

SNPshotrs797045757
SNPdbers797045757
MSV3drs797045757
GWAS Ctlgrs797045757
Max Magnitude0
ClinVar
Risk rs797045757(-;-)
Alt rs797045757(-;-)
Reference Rs797045757(TTT;TTT)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37006452_37006454delTTT
CLNSRC
CLNACC RCV000193100.1,