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rs398123750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123750(A;G)
Make rs398123750(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49042880
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123750
ebirs398123750
HLIrs398123750
Exacrs398123750
Varsomers398123750
Maprs398123750
PheGenIrs398123750
hapmaprs398123750
1000 genomesrs398123750
hgdprs398123750
ensemblrs398123750
gopubmedrs398123750
geneviewrs398123750
scholarrs398123750
googlers398123750
pharmgkbrs398123750
gwascentralrs398123750
openSNPrs398123750
23andMers398123750
23andMe allrs398123750
SNP Nexus

SNPshotrs398123750
SNPdbers398123750
MSV3drs398123750
GWAS Ctlgrs398123750
Max Magnitude0
ClinVar
Risk rs398123750(G;G)
Alt rs398123750(G;G)
Reference rs398123750(A;A)
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.49436663T>C
CLNSRC ClinVar
CLNACC RCV000080193.3, RCV000176651.1,