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

rs398123711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123711(C;T)
Make rs398123711(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49032299
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123711
ebirs398123711
HLIrs398123711
Exacrs398123711
Varsomers398123711
Maprs398123711
PheGenIrs398123711
hapmaprs398123711
1000 genomesrs398123711
hgdprs398123711
ensemblrs398123711
gopubmedrs398123711
geneviewrs398123711
scholarrs398123711
googlers398123711
pharmgkbrs398123711
gwascentralrs398123711
openSNPrs398123711
23andMers398123711
23andMe allrs398123711
SNP Nexus

SNPshotrs398123711
SNPdbers398123711
MSV3drs398123711
GWAS Ctlgrs398123711
Max Magnitude0
ClinVar
Risk rs398123711(T;T)
Alt rs398123711(T;T)
Reference rs398123711(C;C)
Significance Pathogenic
Disease not provided Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN not provided Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49426082G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080119.3, RCV000177987.1,