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rs797045768

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045768(-;CTGA)
Make rs797045768(CTGA;CTGA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37019381
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045768
ClinGenrs797045768
ebirs797045768
HLIrs797045768
Exacrs797045768
Varsomers797045768
Maprs797045768
PheGenIrs797045768
hapmaprs797045768
1000 genomesrs797045768
hgdprs797045768
ensemblrs797045768
gopubmedrs797045768
geneviewrs797045768
scholarrs797045768
googlers797045768
pharmgkbrs797045768
gwascentralrs797045768
openSNPrs797045768
23andMers797045768
23andMe allrs797045768
SNP Nexus

SNPshotrs797045768
SNPdbers797045768
MSV3drs797045768
GWAS Ctlgrs797045768
Max Magnitude0
ClinVar
Risk rs797045768(ACTG;ACTG)
Alt rs797045768(ACTG;ACTG)
Reference Rs797045768(;)
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.37019480_37019483dupCTGA
CLNSRC
CLNACC RCV000192335.1,