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rs797044744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044744(-;A)
Make rs797044744(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49027080
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797044744
dbSNP (old)rs797044744
ClinGenrs797044744
ebirs797044744
HLIrs797044744
Exacrs797044744
Gnomadrs797044744
Varsomers797044744
Maprs797044744
PheGenIrs797044744
Biobankrs797044744
1000 genomesrs797044744
hgdprs797044744
ensemblrs797044744
gopubmedrs797044744
geneviewrs797044744
scholarrs797044744
googlers797044744
pharmgkbrs797044744
gwascentralrs797044744
openSNPrs797044744
23andMers797044744
23andMe allrs797044744
SNP Nexus

SNPshotrs797044744
SNPdbers797044744
MSV3drs797044744
GWAS Ctlgrs797044744
Max Magnitude0
ClinVar
Risk rs797044744(A;A)
Alt rs797044744(A;A)
Reference Rs797044744(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49420864dupT
CLNSRC
CLNACC RCV000178652.1,