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rs398123721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123721(C;T)
Make rs398123721(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position49027256
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123721
ebirs398123721
HLIrs398123721
Exacrs398123721
Varsomers398123721
Maprs398123721
PheGenIrs398123721
hapmaprs398123721
1000 genomesrs398123721
hgdprs398123721
ensemblrs398123721
gopubmedrs398123721
geneviewrs398123721
scholarrs398123721
googlers398123721
pharmgkbrs398123721
gwascentralrs398123721
openSNPrs398123721
23andMers398123721
23andMe allrs398123721
SNP Nexus

SNPshotrs398123721
SNPdbers398123721
MSV3drs398123721
GWAS Ctlgrs398123721
Max Magnitude0
ClinVar
Risk rs398123721(T;T)
Alt rs398123721(T;T)
Reference rs398123721(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.49421039G>A
CLNSRC HGMD
CLNACC RCV000080139.4, RCV000146172.1,