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rs793888515

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs793888515(C;C)
Make rs793888515(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49022152
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888515
ebirs793888515
HLIrs793888515
Exacrs793888515
Varsomers793888515
Maprs793888515
PheGenIrs793888515
hapmaprs793888515
1000 genomesrs793888515
hgdprs793888515
ensemblrs793888515
gopubmedrs793888515
geneviewrs793888515
scholarrs793888515
googlers793888515
pharmgkbrs793888515
gwascentralrs793888515
openSNPrs793888515
23andMers793888515
23andMe allrs793888515
SNP Nexus

SNPshotrs793888515
SNPdbers793888515
MSV3drs793888515
GWAS Ctlgrs793888515
Max Magnitude0
ClinVar
Risk rs793888515(C;C)
Alt rs793888515(C;C)
Reference rs793888515(G;G)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49415935C>G
CLNSRC
CLNACC RCV000172953.1,