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rs398123720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123720(-;-)
Make rs398123720(-;T)
Make rs398123720(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49027865
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123720
ebirs398123720
HLIrs398123720
Exacrs398123720
Varsomers398123720
Maprs398123720
PheGenIrs398123720
hapmaprs398123720
1000 genomesrs398123720
hgdprs398123720
ensemblrs398123720
gopubmedrs398123720
geneviewrs398123720
scholarrs398123720
googlers398123720
pharmgkbrs398123720
gwascentralrs398123720
openSNPrs398123720
23andMers398123720
23andMe allrs398123720
SNP Nexus

SNPshotrs398123720
SNPdbers398123720
MSV3drs398123720
GWAS Ctlgrs398123720
Max Magnitude0
ClinVar
Risk rs398123720(T;T)
Alt rs398123720(T;T)
Reference rs398123720(;)
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.49421649dupA
CLNSRC ClinVar
CLNACC RCV000080138.3, RCV000178625.1,