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rs797045784

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045784(-;TA)
Make rs797045784(TA;TA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37061000
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045784
ClinGenrs797045784
ebirs797045784
HLIrs797045784
Exacrs797045784
Varsomers797045784
Maprs797045784
PheGenIrs797045784
hapmaprs797045784
1000 genomesrs797045784
hgdprs797045784
ensemblrs797045784
gopubmedrs797045784
geneviewrs797045784
scholarrs797045784
googlers797045784
pharmgkbrs797045784
gwascentralrs797045784
openSNPrs797045784
23andMers797045784
23andMe allrs797045784
SNP Nexus

SNPshotrs797045784
SNPdbers797045784
MSV3drs797045784
GWAS Ctlgrs797045784
Max Magnitude0
ClinVar
Risk rs797045784(TA;TA)
Alt rs797045784(TA;TA)
Reference Rs797045784(;)
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.37061101_37061102dupTA
CLNSRC
CLNACC RCV000192441.1,