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rs797045767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTGCTTG;ATTGCTTG) 0 common in clinvar
Make rs797045767(-;-)
Make rs797045767(-;GCTTGATT)
Make rs797045767(GCTTGATT;GCTTGATT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37019355
GeneNIPBL
is asnp
is mentioned by
dbSNPrs797045767
dbSNP (old)rs797045767
ClinGenrs797045767
ebirs797045767
HLIrs797045767
Exacrs797045767
Gnomadrs797045767
Varsomers797045767
Maprs797045767
PheGenIrs797045767
Biobankrs797045767
1000 genomesrs797045767
hgdprs797045767
ensemblrs797045767
gopubmedrs797045767
geneviewrs797045767
scholarrs797045767
googlers797045767
pharmgkbrs797045767
gwascentralrs797045767
openSNPrs797045767
23andMers797045767
23andMe allrs797045767
SNP Nexus

SNPshotrs797045767
SNPdbers797045767
MSV3drs797045767
GWAS Ctlgrs797045767
Max Magnitude0
ClinVar
Risk rs797045767(-;-)
Alt rs797045767(-;-)
Reference Rs797045767(ATTGCTTG;ATTGCTTG)
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.37019457_37019464delGCTTGATT
CLNSRC
CLNACC RCV000194873.1,