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rs398123715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123715(-;-)
Make rs398123715(-;C)
Make rs398123715(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49052382
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123715
ebirs398123715
HLIrs398123715
Exacrs398123715
Varsomers398123715
Maprs398123715
PheGenIrs398123715
hapmaprs398123715
1000 genomesrs398123715
hgdprs398123715
ensemblrs398123715
gopubmedrs398123715
geneviewrs398123715
scholarrs398123715
googlers398123715
pharmgkbrs398123715
gwascentralrs398123715
openSNPrs398123715
23andMers398123715
23andMe allrs398123715
SNP Nexus

SNPshotrs398123715
SNPdbers398123715
MSV3drs398123715
GWAS Ctlgrs398123715
Max Magnitude0
ClinVar
Risk rs398123715(C;C)
Alt rs398123715(C;C)
Reference rs398123715(;)
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.49446166dupG
CLNSRC ClinVar
CLNACC RCV000080126.3, RCV000173777.1,