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rs794727143

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727143(A;A)
Make rs794727143(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49046762
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727143
ebirs794727143
HLIrs794727143
Exacrs794727143
Varsomers794727143
Maprs794727143
PheGenIrs794727143
hapmaprs794727143
1000 genomesrs794727143
hgdprs794727143
ensemblrs794727143
gopubmedrs794727143
geneviewrs794727143
scholarrs794727143
googlers794727143
pharmgkbrs794727143
gwascentralrs794727143
openSNPrs794727143
23andMers794727143
23andMe allrs794727143
SNP Nexus

SNPshotrs794727143
SNPdbers794727143
MSV3drs794727143
GWAS Ctlgrs794727143
Max Magnitude0
ClinVar
Risk rs794727143(A;A)
Alt rs794727143(A;A)
Reference rs794727143(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.49440545C>T
CLNSRC
CLNACC RCV000174880.1,