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rs398123733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123733(-;-)
Make rs398123733(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49022819
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123733
ebirs398123733
HLIrs398123733
Exacrs398123733
Varsomers398123733
Maprs398123733
PheGenIrs398123733
hapmaprs398123733
1000 genomesrs398123733
hgdprs398123733
ensemblrs398123733
gopubmedrs398123733
geneviewrs398123733
scholarrs398123733
googlers398123733
pharmgkbrs398123733
gwascentralrs398123733
openSNPrs398123733
23andMers398123733
23andMe allrs398123733
SNP Nexus

SNPshotrs398123733
SNPdbers398123733
MSV3drs398123733
GWAS Ctlgrs398123733
Max Magnitude0
ClinVar
Risk rs398123733(;)
Alt rs398123733(;)
Reference rs398123733(G;G)
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.49416602delC
CLNSRC ClinVar
CLNACC RCV000080153.3, RCV000179088.1,