Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727420

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727420(C;T)
Make rs794727420(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49042846
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727420
ebirs794727420
HLIrs794727420
Exacrs794727420
Varsomers794727420
Maprs794727420
PheGenIrs794727420
hapmaprs794727420
1000 genomesrs794727420
hgdprs794727420
ensemblrs794727420
gopubmedrs794727420
geneviewrs794727420
scholarrs794727420
googlers794727420
pharmgkbrs794727420
gwascentralrs794727420
openSNPrs794727420
23andMers794727420
23andMe allrs794727420
SNP Nexus

SNPshotrs794727420
SNPdbers794727420
MSV3drs794727420
GWAS Ctlgrs794727420
Max Magnitude0
ClinVar
Risk rs794727420(T;T)
Alt rs794727420(T;T)
Reference rs794727420(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49436629G>A
CLNSRC
CLNACC RCV000176652.1,