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rs398123712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123712(C;T)
Make rs398123712(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49032275
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123712
ebirs398123712
HLIrs398123712
Exacrs398123712
Varsomers398123712
Maprs398123712
PheGenIrs398123712
hapmaprs398123712
1000 genomesrs398123712
hgdprs398123712
ensemblrs398123712
gopubmedrs398123712
geneviewrs398123712
scholarrs398123712
googlers398123712
pharmgkbrs398123712
gwascentralrs398123712
openSNPrs398123712
23andMers398123712
23andMe allrs398123712
SNP Nexus

SNPshotrs398123712
SNPdbers398123712
MSV3drs398123712
GWAS Ctlgrs398123712
Max Magnitude0
ClinVar
Risk rs398123712(T;T)
Alt rs398123712(T;T)
Reference rs398123712(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.49426058G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080120.3, RCV000177992.1,