Have questions? Visit https://www.reddit.com/r/SNPedia

rs793888516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAGCAGCAACAGCAGCA;ACAGCAGCAACAGCAGCA) 0 common in clinvar
Make rs793888516(-;-)
Make rs793888516(-;ACAGCAGCAACAGCAGCA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49032892
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888516
dbSNP (old)rs793888516
ClinGenrs793888516
ebirs793888516
HLIrs793888516
Exacrs793888516
Gnomadrs793888516
Varsomers793888516
Maprs793888516
PheGenIrs793888516
Biobankrs793888516
1000 genomesrs793888516
hgdprs793888516
ensemblrs793888516
gopubmedrs793888516
geneviewrs793888516
scholarrs793888516
googlers793888516
pharmgkbrs793888516
gwascentralrs793888516
openSNPrs793888516
23andMers793888516
23andMe allrs793888516
SNP Nexus

SNPshotrs793888516
SNPdbers793888516
MSV3drs793888516
GWAS Ctlgrs793888516
Max Magnitude0
ClinVar
Risk rs793888516(-;-)
Alt rs793888516(-;-)
Reference Rs793888516(ACAGCAGCAACAGCAGCA;ACAGCAGCAACAGCAGCA)
Significance Probable-Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49426675_49426692del18
CLNSRC
CLNACC RCV000172954.1,