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rs398123757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123757(C;T)
Make rs398123757(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49040704
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123757
ebirs398123757
HLIrs398123757
Exacrs398123757
Varsomers398123757
Maprs398123757
PheGenIrs398123757
hapmaprs398123757
1000 genomesrs398123757
hgdprs398123757
ensemblrs398123757
gopubmedrs398123757
geneviewrs398123757
scholarrs398123757
googlers398123757
pharmgkbrs398123757
gwascentralrs398123757
openSNPrs398123757
23andMers398123757
23andMe allrs398123757
SNP Nexus

SNPshotrs398123757
SNPdbers398123757
MSV3drs398123757
GWAS Ctlgrs398123757
Max Magnitude0
ClinVar
Risk rs398123757(T;T)
Alt rs398123757(T;T)
Reference rs398123757(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.49434487G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080208.3, RCV000177551.1,