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

rs796065328

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796065328(-;C)
Make rs796065328(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49050005
GeneKMT2D
is asnp
is mentioned by
dbSNPrs796065328
ClinGenrs796065328
ebirs796065328
HLIrs796065328
Exacrs796065328
Varsomers796065328
Maprs796065328
PheGenIrs796065328
hapmaprs796065328
1000 genomesrs796065328
hgdprs796065328
ensemblrs796065328
gopubmedrs796065328
geneviewrs796065328
scholarrs796065328
googlers796065328
pharmgkbrs796065328
gwascentralrs796065328
openSNPrs796065328
23andMers796065328
23andMe allrs796065328
SNP Nexus

SNPshotrs796065328
SNPdbers796065328
MSV3drs796065328
GWAS Ctlgrs796065328
Max Magnitude0
ClinVar
Risk rs796065328(C;C)
Alt rs796065328(C;C)
Reference Rs796065328(;)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49443789dupG
CLNSRC
CLNACC RCV000174075.1,