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rs797045317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs797045317(-;-)
Make rs797045317(-;ACAG)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position33738596
GeneASXL3
is asnp
is mentioned by
dbSNPrs797045317
ClinGenrs797045317
ebirs797045317
HLIrs797045317
Exacrs797045317
Varsomers797045317
Maprs797045317
PheGenIrs797045317
hapmaprs797045317
1000 genomesrs797045317
hgdprs797045317
ensemblrs797045317
gopubmedrs797045317
geneviewrs797045317
scholarrs797045317
googlers797045317
pharmgkbrs797045317
gwascentralrs797045317
openSNPrs797045317
23andMers797045317
23andMe allrs797045317
SNP Nexus

SNPshotrs797045317
SNPdbers797045317
MSV3drs797045317
GWAS Ctlgrs797045317
Max Magnitude0
ClinVar
Risk rs797045317(-;-)
Alt rs797045317(-;-)
Reference Rs797045317(ACAG;ACAG)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome not provided
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome not provided
Reversed 0
HGVS NC_000018.9:g.31318560_31318563delACAG
CLNSRC
CLNACC RCV000193468.1, RCV000486570.1,