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rs797045749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045749(-;AG)
Make rs797045749(AG;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position36955620
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045749
ClinGenrs797045749
ebirs797045749
HLIrs797045749
Exacrs797045749
Varsomers797045749
Maprs797045749
PheGenIrs797045749
hapmaprs797045749
1000 genomesrs797045749
hgdprs797045749
ensemblrs797045749
gopubmedrs797045749
geneviewrs797045749
scholarrs797045749
googlers797045749
pharmgkbrs797045749
gwascentralrs797045749
openSNPrs797045749
23andMers797045749
23andMe allrs797045749
SNP Nexus

SNPshotrs797045749
SNPdbers797045749
MSV3drs797045749
GWAS Ctlgrs797045749
Max Magnitude0
ClinVar
Risk rs797045749(AG;AG)
Alt rs797045749(AG;AG)
Reference Rs797045749(-;-)
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.36955721_36955722dupAG
CLNSRC
CLNACC RCV000192596.1,