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

rs398123722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123722(-;-)
Make rs398123722(-;A)
Make rs398123722(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position49026935
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123722
ebirs398123722
HLIrs398123722
Exacrs398123722
Varsomers398123722
Maprs398123722
PheGenIrs398123722
hapmaprs398123722
1000 genomesrs398123722
hgdprs398123722
ensemblrs398123722
gopubmedrs398123722
geneviewrs398123722
scholarrs398123722
googlers398123722
pharmgkbrs398123722
gwascentralrs398123722
openSNPrs398123722
23andMers398123722
23andMe allrs398123722
SNP Nexus

SNPshotrs398123722
SNPdbers398123722
MSV3drs398123722
GWAS Ctlgrs398123722
Max Magnitude0
ClinVar
Risk rs398123722(A;A)
Alt rs398123722(A;A)
Reference rs398123722(;)
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.49420719dupT
CLNSRC ClinVar
CLNACC RCV000080140.3, RCV000178656.1,