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rs398123744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs398123744(-;-)
Make rs398123744(-;AT)
ReferenceGRCh38 38.1/141
Chromosome12
Position49048065
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123744
ebirs398123744
HLIrs398123744
Exacrs398123744
Varsomers398123744
Maprs398123744
PheGenIrs398123744
hapmaprs398123744
1000 genomesrs398123744
hgdprs398123744
ensemblrs398123744
gopubmedrs398123744
geneviewrs398123744
scholarrs398123744
googlers398123744
pharmgkbrs398123744
gwascentralrs398123744
openSNPrs398123744
23andMers398123744
23andMe allrs398123744
SNP Nexus

SNPshotrs398123744
SNPdbers398123744
MSV3drs398123744
GWAS Ctlgrs398123744
Max Magnitude0
ClinVar
Risk rs398123744(;)
Alt rs398123744(;)
Reference rs398123744(AT;AT)
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.49441848_49441849delAT
CLNSRC ClinVar University of Chicago
CLNACC RCV000080179.3, RCV000146210.2,