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rs398123704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123704(C;T)
Make rs398123704(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49033556
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123704
ebirs398123704
HLIrs398123704
Exacrs398123704
Varsomers398123704
Maprs398123704
PheGenIrs398123704
hapmaprs398123704
1000 genomesrs398123704
hgdprs398123704
ensemblrs398123704
gopubmedrs398123704
geneviewrs398123704
scholarrs398123704
googlers398123704
pharmgkbrs398123704
gwascentralrs398123704
openSNPrs398123704
23andMers398123704
23andMe allrs398123704
SNP Nexus

SNPshotrs398123704
SNPdbers398123704
MSV3drs398123704
GWAS Ctlgrs398123704
Max Magnitude0
ClinVar
Risk rs398123704(T;T)
Alt rs398123704(T;T)
Reference rs398123704(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.49427339G>A
CLNSRC HGMD
CLNACC RCV000080109.3, RCV000177989.1,