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rs398123758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123758(-;-)
Make rs398123758(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49040630
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123758
ebirs398123758
HLIrs398123758
Exacrs398123758
Varsomers398123758
Maprs398123758
PheGenIrs398123758
hapmaprs398123758
1000 genomesrs398123758
hgdprs398123758
ensemblrs398123758
gopubmedrs398123758
geneviewrs398123758
scholarrs398123758
googlers398123758
pharmgkbrs398123758
gwascentralrs398123758
openSNPrs398123758
23andMers398123758
23andMe allrs398123758
SNP Nexus

SNPshotrs398123758
SNPdbers398123758
MSV3drs398123758
GWAS Ctlgrs398123758
Max Magnitude0
ClinVar
Risk rs398123758(;)
Alt rs398123758(;)
Reference rs398123758(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.49434413delC
CLNSRC ClinVar
CLNACC RCV000080209.3, RCV000177552.1,