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rs587783705

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783705(G;T)
Make rs587783705(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49051870
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783705
ebirs587783705
HLIrs587783705
Exacrs587783705
Varsomers587783705
Maprs587783705
PheGenIrs587783705
hapmaprs587783705
1000 genomesrs587783705
hgdprs587783705
ensemblrs587783705
gopubmedrs587783705
geneviewrs587783705
scholarrs587783705
googlers587783705
pharmgkbrs587783705
gwascentralrs587783705
openSNPrs587783705
23andMers587783705
23andMe allrs587783705
SNP Nexus

SNPshotrs587783705
SNPdbers587783705
MSV3drs587783705
GWAS Ctlgrs587783705
Max Magnitude0
ClinVar
Risk rs587783705(T;T)
Alt rs587783705(T;T)
Reference rs587783705(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.49445653C>A
CLNSRC
CLNACC RCV000146187.1,