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rs398123702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123702(C;T)
Make rs398123702(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49033871
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123702
ebirs398123702
HLIrs398123702
Exacrs398123702
Varsomers398123702
Maprs398123702
PheGenIrs398123702
hapmaprs398123702
1000 genomesrs398123702
hgdprs398123702
ensemblrs398123702
gopubmedrs398123702
geneviewrs398123702
scholarrs398123702
googlers398123702
pharmgkbrs398123702
gwascentralrs398123702
openSNPrs398123702
23andMers398123702
23andMe allrs398123702
SNP Nexus

SNPshotrs398123702
SNPdbers398123702
MSV3drs398123702
GWAS Ctlgrs398123702
Max Magnitude0
ClinVar
Risk rs398123702(T;T)
Alt rs398123702(T;T)
Reference rs398123702(C;C)
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.49427654G>A
CLNSRC ClinVar Emory University
CLNACC RCV000080104.3, RCV000177986.1,