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rs794727689

From SNPedia

Orientationminus
Make rs794727689(-;-)
Make rs794727689(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49026794
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727689
ebirs794727689
HLIrs794727689
Exacrs794727689
Varsomers794727689
Maprs794727689
PheGenIrs794727689
hapmaprs794727689
1000 genomesrs794727689
hgdprs794727689
ensemblrs794727689
gopubmedrs794727689
geneviewrs794727689
scholarrs794727689
googlers794727689
pharmgkbrs794727689
gwascentralrs794727689
openSNPrs794727689
23andMers794727689
23andMe allrs794727689
SNP Nexus

SNPshotrs794727689
SNPdbers794727689
MSV3drs794727689
GWAS Ctlgrs794727689
Max Magnitude
ClinVar
Risk rs794727689(;)
Alt rs794727689(;)
Reference rs794727689(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.49420577delC
CLNSRC
CLNACC RCV000178653.1,