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rs797044740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044740(-;G)
Make rs797044740(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49030659
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797044740
ClinGenrs797044740
ebirs797044740
HLIrs797044740
Exacrs797044740
Varsomers797044740
Maprs797044740
PheGenIrs797044740
hapmaprs797044740
1000 genomesrs797044740
hgdprs797044740
ensemblrs797044740
gopubmedrs797044740
geneviewrs797044740
scholarrs797044740
googlers797044740
pharmgkbrs797044740
gwascentralrs797044740
openSNPrs797044740
23andMers797044740
23andMe allrs797044740
SNP Nexus

SNPshotrs797044740
SNPdbers797044740
MSV3drs797044740
GWAS Ctlgrs797044740
Max Magnitude0
ClinVar
Risk rs797044740(G;G)
Alt rs797044740(G;G)
Reference Rs797044740(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49424443dupC
CLNSRC
CLNACC RCV000178460.1,