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rs398123701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123701(C;T)
Make rs398123701(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49033886
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123701
ebirs398123701
HLIrs398123701
Exacrs398123701
Varsomers398123701
Maprs398123701
PheGenIrs398123701
hapmaprs398123701
1000 genomesrs398123701
hgdprs398123701
ensemblrs398123701
gopubmedrs398123701
geneviewrs398123701
scholarrs398123701
googlers398123701
pharmgkbrs398123701
gwascentralrs398123701
openSNPrs398123701
23andMers398123701
23andMe allrs398123701
SNP Nexus

SNPshotrs398123701
SNPdbers398123701
MSV3drs398123701
GWAS Ctlgrs398123701
Max Magnitude0
ClinVar
Risk rs398123701(T;T)
Alt rs398123701(T;T)
Reference rs398123701(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.49427669G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080103.3, RCV000177990.1,