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rs794727752

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727752(G;T)
Make rs794727752(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49022279
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727752
ebirs794727752
HLIrs794727752
Exacrs794727752
Varsomers794727752
Maprs794727752
PheGenIrs794727752
hapmaprs794727752
1000 genomesrs794727752
hgdprs794727752
ensemblrs794727752
gopubmedrs794727752
geneviewrs794727752
scholarrs794727752
googlers794727752
pharmgkbrs794727752
gwascentralrs794727752
openSNPrs794727752
23andMers794727752
23andMe allrs794727752
SNP Nexus

SNPshotrs794727752
SNPdbers794727752
MSV3drs794727752
GWAS Ctlgrs794727752
Max Magnitude0
ClinVar
Risk rs794727752(T;T)
Alt rs794727752(T;T)
Reference rs794727752(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49416062C>A
CLNSRC
CLNACC RCV000179103.1,