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rs794727549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727549(C;T)
Make rs794727549(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49039867
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727549
dbSNP (old)rs794727549
ClinGenrs794727549
ebirs794727549
HLIrs794727549
Exacrs794727549
Gnomadrs794727549
Varsomers794727549
Maprs794727549
PheGenIrs794727549
Biobankrs794727549
1000 genomesrs794727549
hgdprs794727549
ensemblrs794727549
gopubmedrs794727549
geneviewrs794727549
scholarrs794727549
googlers794727549
pharmgkbrs794727549
gwascentralrs794727549
openSNPrs794727549
23andMers794727549
23andMe allrs794727549
SNP Nexus

SNPshotrs794727549
SNPdbers794727549
MSV3drs794727549
GWAS Ctlgrs794727549
Max Magnitude0
ClinVar
Risk rs794727549(T;T)
Alt rs794727549(T;T)
Reference Rs794727549(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49433650G>A
CLNSRC
CLNACC RCV000177549.1,