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rs587783727

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783727(C;T)
Make rs587783727(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49039611
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783727
ebirs587783727
HLIrs587783727
Exacrs587783727
Varsomers587783727
Maprs587783727
PheGenIrs587783727
hapmaprs587783727
1000 genomesrs587783727
hgdprs587783727
ensemblrs587783727
gopubmedrs587783727
geneviewrs587783727
scholarrs587783727
googlers587783727
pharmgkbrs587783727
gwascentralrs587783727
openSNPrs587783727
23andMers587783727
23andMe allrs587783727
SNP Nexus

SNPshotrs587783727
SNPdbers587783727
MSV3drs587783727
GWAS Ctlgrs587783727
Max Magnitude0
ClinVar
Risk rs587783727(T;T)
Alt rs587783727(T;T)
Reference rs587783727(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.49433394G>A
CLNSRC
CLNACC RCV000146236.1,