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

rs587783692

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783692(C;T)
Make rs587783692(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49030958
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783692
ebirs587783692
HLIrs587783692
Exacrs587783692
Varsomers587783692
Maprs587783692
PheGenIrs587783692
hapmaprs587783692
1000 genomesrs587783692
hgdprs587783692
ensemblrs587783692
gopubmedrs587783692
geneviewrs587783692
scholarrs587783692
googlers587783692
pharmgkbrs587783692
gwascentralrs587783692
openSNPrs587783692
23andMers587783692
23andMe allrs587783692
SNP Nexus

SNPshotrs587783692
SNPdbers587783692
MSV3drs587783692
GWAS Ctlgrs587783692
Max Magnitude0
ClinVar
Risk rs587783692(T;T)
Alt rs587783692(T;T)
Reference rs587783692(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.49424741G>A
CLNSRC
CLNACC RCV000146170.2,