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

rs398123706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs398123706(-;-)
Make rs398123706(-;TG)
ReferenceGRCh38 38.1/141
Chromosome12
Position49033503
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123706
ebirs398123706
HLIrs398123706
Exacrs398123706
Varsomers398123706
Maprs398123706
PheGenIrs398123706
hapmaprs398123706
1000 genomesrs398123706
hgdprs398123706
ensemblrs398123706
gopubmedrs398123706
geneviewrs398123706
scholarrs398123706
googlers398123706
pharmgkbrs398123706
gwascentralrs398123706
openSNPrs398123706
23andMers398123706
23andMe allrs398123706
SNP Nexus

SNPshotrs398123706
SNPdbers398123706
MSV3drs398123706
GWAS Ctlgrs398123706
Max Magnitude0
ClinVar
Risk rs398123706(;)
Alt rs398123706(;)
Reference rs398123706(TG;TG)
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.49427286_49427287delCA
CLNSRC ClinVar
CLNACC RCV000080111.3, RCV000177991.1,