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rs398123716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123716(-;-)
Make rs398123716(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49031673
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123716
ebirs398123716
HLIrs398123716
Exacrs398123716
Varsomers398123716
Maprs398123716
PheGenIrs398123716
hapmaprs398123716
1000 genomesrs398123716
hgdprs398123716
ensemblrs398123716
gopubmedrs398123716
geneviewrs398123716
scholarrs398123716
googlers398123716
pharmgkbrs398123716
gwascentralrs398123716
openSNPrs398123716
23andMers398123716
23andMe allrs398123716
SNP Nexus

SNPshotrs398123716
SNPdbers398123716
MSV3drs398123716
GWAS Ctlgrs398123716
Max Magnitude0
ClinVar
Risk rs398123716(;)
Alt rs398123716(;)
Reference rs398123716(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.49425456delG
CLNSRC ClinVar
CLNACC RCV000080127.3, RCV000177988.1,