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rs863224890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224890(C;T)
Make rs863224890(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49033430
GeneKMT2D
is asnp
is mentioned by
dbSNPrs863224890
dbSNP (old)rs863224890
ClinGenrs863224890
ebirs863224890
HLIrs863224890
Exacrs863224890
Varsomers863224890
Maprs863224890
PheGenIrs863224890
Biobankrs863224890
1000 genomesrs863224890
hgdprs863224890
ensemblrs863224890
gopubmedrs863224890
geneviewrs863224890
scholarrs863224890
googlers863224890
pharmgkbrs863224890
gwascentralrs863224890
openSNPrs863224890
23andMers863224890
23andMe allrs863224890
SNP Nexus

SNPshotrs863224890
SNPdbers863224890
MSV3drs863224890
GWAS Ctlgrs863224890
Max Magnitude0
ClinVar
Risk rs863224890(T;T)
Alt rs863224890(T;T)
Reference Rs863224890(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49427213G>A
CLNSRC
CLNACC RCV000200354.1,