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rs793888513

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs793888513(G;T)
Make rs793888513(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49027307
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888513
ebirs793888513
HLIrs793888513
Exacrs793888513
Varsomers793888513
Maprs793888513
PheGenIrs793888513
hapmaprs793888513
1000 genomesrs793888513
hgdprs793888513
ensemblrs793888513
gopubmedrs793888513
geneviewrs793888513
scholarrs793888513
googlers793888513
pharmgkbrs793888513
gwascentralrs793888513
openSNPrs793888513
23andMers793888513
23andMe allrs793888513
SNP Nexus

SNPshotrs793888513
SNPdbers793888513
MSV3drs793888513
GWAS Ctlgrs793888513
Max Magnitude0
ClinVar
Risk rs793888513(T;T)
Alt rs793888513(T;T)
Reference rs793888513(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.49421090C>A
CLNSRC
CLNACC RCV000172949.1,