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rs398123729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123729(A;A)
Make rs398123729(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49026325
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123729
ebirs398123729
HLIrs398123729
Exacrs398123729
Varsomers398123729
Maprs398123729
PheGenIrs398123729
hapmaprs398123729
1000 genomesrs398123729
hgdprs398123729
ensemblrs398123729
gopubmedrs398123729
geneviewrs398123729
scholarrs398123729
googlers398123729
pharmgkbrs398123729
gwascentralrs398123729
openSNPrs398123729
23andMers398123729
23andMe allrs398123729
SNP Nexus

SNPshotrs398123729
SNPdbers398123729
MSV3drs398123729
GWAS Ctlgrs398123729
Max Magnitude0
ClinVar
Risk rs398123729(A;A)
Alt rs398123729(A;A)
Reference rs398123729(G;G)
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.49420108C>T
CLNSRC HGMD
CLNACC RCV000080148.3, RCV000178659.1,