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rs398123723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123723(C;C)
Make rs398123723(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49026862
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123723
ebirs398123723
HLIrs398123723
Exacrs398123723
Varsomers398123723
Maprs398123723
PheGenIrs398123723
hapmaprs398123723
1000 genomesrs398123723
hgdprs398123723
ensemblrs398123723
gopubmedrs398123723
geneviewrs398123723
scholarrs398123723
googlers398123723
pharmgkbrs398123723
gwascentralrs398123723
openSNPrs398123723
23andMers398123723
23andMe allrs398123723
SNP Nexus

SNPshotrs398123723
SNPdbers398123723
MSV3drs398123723
GWAS Ctlgrs398123723
Max Magnitude0
ClinVar
Risk rs398123723(C;C)
Alt rs398123723(C;C)
Reference rs398123723(G;G)
Significance Probable-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.49420645C>G
CLNSRC ClinVar Emory University
CLNACC RCV000080142.3, RCV000178658.1,