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rs794727610

From SNPedia

Orientationminus
Make rs794727610(-;-)
Make rs794727610(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49032766
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727610
ebirs794727610
HLIrs794727610
Exacrs794727610
Varsomers794727610
Maprs794727610
PheGenIrs794727610
hapmaprs794727610
1000 genomesrs794727610
hgdprs794727610
ensemblrs794727610
gopubmedrs794727610
geneviewrs794727610
scholarrs794727610
googlers794727610
pharmgkbrs794727610
gwascentralrs794727610
openSNPrs794727610
23andMers794727610
23andMe allrs794727610
SNP Nexus

SNPshotrs794727610
SNPdbers794727610
MSV3drs794727610
GWAS Ctlgrs794727610
Max Magnitude
ClinVar
Risk rs794727610(;)
Alt rs794727610(;)
Reference rs794727610(A;A)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49426549delT
CLNSRC
CLNACC RCV000177995.1,