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rs398123700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123700(A;A)
Make rs398123700(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49034067
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123700
ebirs398123700
HLIrs398123700
Exacrs398123700
Varsomers398123700
Maprs398123700
PheGenIrs398123700
hapmaprs398123700
1000 genomesrs398123700
hgdprs398123700
ensemblrs398123700
gopubmedrs398123700
geneviewrs398123700
scholarrs398123700
googlers398123700
pharmgkbrs398123700
gwascentralrs398123700
openSNPrs398123700
23andMers398123700
23andMe allrs398123700
SNP Nexus

SNPshotrs398123700
SNPdbers398123700
MSV3drs398123700
GWAS Ctlgrs398123700
Max Magnitude0
ClinVar
Risk rs398123700(A;A)
Alt rs398123700(A;A)
Reference rs398123700(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.49427850C>T
CLNSRC ClinVar Emory University
CLNACC RCV000080102.3, RCV000177938.1,