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rs398123741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123741(C;T)
Make rs398123741(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49050056
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123741
ebirs398123741
HLIrs398123741
Exacrs398123741
Varsomers398123741
Maprs398123741
PheGenIrs398123741
hapmaprs398123741
1000 genomesrs398123741
hgdprs398123741
ensemblrs398123741
gopubmedrs398123741
geneviewrs398123741
scholarrs398123741
googlers398123741
pharmgkbrs398123741
gwascentralrs398123741
openSNPrs398123741
23andMers398123741
23andMe allrs398123741
SNP Nexus

SNPshotrs398123741
SNPdbers398123741
MSV3drs398123741
GWAS Ctlgrs398123741
Max Magnitude0
ClinVar
Risk rs398123741(T;T)
Alt rs398123741(T;T)
Reference rs398123741(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.49443839G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080173.3, RCV000174078.1,