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

rs398123724

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123724(C;T)
Make rs398123724(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49026824
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123724
ebirs398123724
HLIrs398123724
Exacrs398123724
Varsomers398123724
Maprs398123724
PheGenIrs398123724
hapmaprs398123724
1000 genomesrs398123724
hgdprs398123724
ensemblrs398123724
gopubmedrs398123724
geneviewrs398123724
scholarrs398123724
googlers398123724
pharmgkbrs398123724
gwascentralrs398123724
openSNPrs398123724
23andMers398123724
23andMe allrs398123724
SNP Nexus

SNPshotrs398123724
SNPdbers398123724
MSV3drs398123724
GWAS Ctlgrs398123724
Max Magnitude0
ClinVar
Risk rs398123724(T;T)
Alt rs398123724(T;T)
Reference rs398123724(C;C)
Significance Probable-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.49420607G>A
CLNSRC HGMD
CLNACC RCV000080143.4, RCV000172955.1,