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rs793888512

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs793888512(C;T)
Make rs793888512(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49037395
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888512
ebirs793888512
HLIrs793888512
Exacrs793888512
Varsomers793888512
Maprs793888512
PheGenIrs793888512
hapmaprs793888512
1000 genomesrs793888512
hgdprs793888512
ensemblrs793888512
gopubmedrs793888512
geneviewrs793888512
scholarrs793888512
googlers793888512
pharmgkbrs793888512
gwascentralrs793888512
openSNPrs793888512
23andMers793888512
23andMe allrs793888512
SNP Nexus

SNPshotrs793888512
SNPdbers793888512
MSV3drs793888512
GWAS Ctlgrs793888512
Max Magnitude0
ClinVar
Risk rs793888512(T;T)
Alt rs793888512(T;T)
Reference rs793888512(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.49431178G>A
CLNSRC
CLNACC RCV000172948.1,