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rs794727379

From SNPedia

Orientationminus
Make rs794727379(-;-)
Make rs794727379(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49043679
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727379
ebirs794727379
HLIrs794727379
Exacrs794727379
Varsomers794727379
Maprs794727379
PheGenIrs794727379
hapmaprs794727379
1000 genomesrs794727379
hgdprs794727379
ensemblrs794727379
gopubmedrs794727379
geneviewrs794727379
scholarrs794727379
googlers794727379
pharmgkbrs794727379
gwascentralrs794727379
openSNPrs794727379
23andMers794727379
23andMe allrs794727379
SNP Nexus

SNPshotrs794727379
SNPdbers794727379
MSV3drs794727379
GWAS Ctlgrs794727379
Max Magnitude
ClinVar
Risk rs794727379(;)
Alt rs794727379(;)
Reference rs794727379(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.49437462delC
CLNSRC
CLNACC RCV000176392.1,