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rs793888511

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs793888511(C;T)
Make rs793888511(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49032017
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888511
ebirs793888511
HLIrs793888511
Exacrs793888511
Varsomers793888511
Maprs793888511
PheGenIrs793888511
hapmaprs793888511
1000 genomesrs793888511
hgdprs793888511
ensemblrs793888511
gopubmedrs793888511
geneviewrs793888511
scholarrs793888511
googlers793888511
pharmgkbrs793888511
gwascentralrs793888511
openSNPrs793888511
23andMers793888511
23andMe allrs793888511
SNP Nexus

SNPshotrs793888511
SNPdbers793888511
MSV3drs793888511
GWAS Ctlgrs793888511
Max Magnitude0
ClinVar
Risk rs793888511(T;T)
Alt rs793888511(T;T)
Reference rs793888511(C;C)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49425800G>A
CLNSRC
CLNACC RCV000172947.1,