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rs794727611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727611(-;-)
Make rs794727611(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49032224
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727611
ClinGenrs794727611
ebirs794727611
HLIrs794727611
Exacrs794727611
Varsomers794727611
Maprs794727611
PheGenIrs794727611
hapmaprs794727611
1000 genomesrs794727611
hgdprs794727611
ensemblrs794727611
gopubmedrs794727611
geneviewrs794727611
scholarrs794727611
googlers794727611
pharmgkbrs794727611
gwascentralrs794727611
openSNPrs794727611
23andMers794727611
23andMe allrs794727611
SNP Nexus

SNPshotrs794727611
SNPdbers794727611
MSV3drs794727611
GWAS Ctlgrs794727611
Max Magnitude0
ClinVar
Risk rs794727611(-;-)
Alt rs794727611(-;-)
Reference Rs794727611(G;G)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49426007delC
CLNSRC
CLNACC RCV000177996.1,