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rs587783686

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783686(-;-)
Make rs587783686(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49031809
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783686
ebirs587783686
HLIrs587783686
Exacrs587783686
Varsomers587783686
Maprs587783686
PheGenIrs587783686
hapmaprs587783686
1000 genomesrs587783686
hgdprs587783686
ensemblrs587783686
gopubmedrs587783686
geneviewrs587783686
scholarrs587783686
googlers587783686
pharmgkbrs587783686
gwascentralrs587783686
openSNPrs587783686
23andMers587783686
23andMe allrs587783686
SNP Nexus

SNPshotrs587783686
SNPdbers587783686
MSV3drs587783686
GWAS Ctlgrs587783686
Max Magnitude0
ClinVar
Risk rs587783686(;)
Alt rs587783686(;)
Reference rs587783686(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.49425592delC
CLNSRC
CLNACC RCV000146161.1,