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rs797045746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs797045746(AA;CTCCCTT)
Make rs797045746(CTCCCTT;CTCCCTT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36976355
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045746
ClinGenrs797045746
ebirs797045746
HLIrs797045746
Exacrs797045746
Varsomers797045746
Maprs797045746
PheGenIrs797045746
hapmaprs797045746
1000 genomesrs797045746
hgdprs797045746
ensemblrs797045746
gopubmedrs797045746
geneviewrs797045746
scholarrs797045746
googlers797045746
pharmgkbrs797045746
gwascentralrs797045746
openSNPrs797045746
23andMers797045746
23andMe allrs797045746
SNP Nexus

SNPshotrs797045746
SNPdbers797045746
MSV3drs797045746
GWAS Ctlgrs797045746
Max Magnitude0
ClinVar
Risk rs797045746(CTCCCTT;CTCCCTT)
Alt rs797045746(CTCCCTT;CTCCCTT)
Reference Rs797045746(AA;AA)
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.36976457_36976458delAAinsCTCCCTT
CLNSRC
CLNACC RCV000194449.1,