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rs797045668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045668(-;A)
Make rs797045668(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49041928
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045668
dbSNP (old)rs797045668
ClinGenrs797045668
ebirs797045668
HLIrs797045668
Exacrs797045668
Varsomers797045668
Maprs797045668
PheGenIrs797045668
Biobankrs797045668
1000 genomesrs797045668
hgdprs797045668
ensemblrs797045668
gopubmedrs797045668
geneviewrs797045668
scholarrs797045668
googlers797045668
pharmgkbrs797045668
gwascentralrs797045668
openSNPrs797045668
23andMers797045668
23andMe allrs797045668
SNP Nexus

SNPshotrs797045668
SNPdbers797045668
MSV3drs797045668
GWAS Ctlgrs797045668
Max Magnitude0
ClinVar
Risk rs797045668(A;A)
Alt rs797045668(A;A)
Reference Rs797045668(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49435712dupT
CLNSRC
CLNACC RCV000195084.1,