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rs398123708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123708(C;T)
Make rs398123708(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49033013
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123708
ebirs398123708
HLIrs398123708
Exacrs398123708
Varsomers398123708
Maprs398123708
PheGenIrs398123708
hapmaprs398123708
1000 genomesrs398123708
hgdprs398123708
ensemblrs398123708
gopubmedrs398123708
geneviewrs398123708
scholarrs398123708
googlers398123708
pharmgkbrs398123708
gwascentralrs398123708
openSNPrs398123708
23andMers398123708
23andMe allrs398123708
SNP Nexus

SNPshotrs398123708
SNPdbers398123708
MSV3drs398123708
GWAS Ctlgrs398123708
Max Magnitude0
ClinVar
Risk rs398123708(T;T)
Alt rs398123708(T;T)
Reference rs398123708(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.49426796G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080114.3, RCV000177985.1,