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

rs587783714

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783714(C;C)
Make rs587783714(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49054527
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783714
ebirs587783714
HLIrs587783714
Exacrs587783714
Varsomers587783714
Maprs587783714
PheGenIrs587783714
hapmaprs587783714
1000 genomesrs587783714
hgdprs587783714
ensemblrs587783714
gopubmedrs587783714
geneviewrs587783714
scholarrs587783714
googlers587783714
pharmgkbrs587783714
gwascentralrs587783714
openSNPrs587783714
23andMers587783714
23andMe allrs587783714
SNP Nexus

SNPshotrs587783714
SNPdbers587783714
MSV3drs587783714
GWAS Ctlgrs587783714
Max Magnitude0
ClinVar
Risk rs587783714(C;C)
Alt rs587783714(C;C)
Reference rs587783714(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49448310C>G
CLNSRC
CLNACC RCV000146205.1,