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rs587783685

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783685(C;T)
Make rs587783685(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49032113
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783685
ebirs587783685
HLIrs587783685
Exacrs587783685
Varsomers587783685
Maprs587783685
PheGenIrs587783685
hapmaprs587783685
1000 genomesrs587783685
hgdprs587783685
ensemblrs587783685
gopubmedrs587783685
geneviewrs587783685
scholarrs587783685
googlers587783685
pharmgkbrs587783685
gwascentralrs587783685
openSNPrs587783685
23andMers587783685
23andMe allrs587783685
SNP Nexus

SNPshotrs587783685
SNPdbers587783685
MSV3drs587783685
GWAS Ctlgrs587783685
Max Magnitude0
ClinVar
Risk rs587783685(T;T)
Alt rs587783685(T;T)
Reference rs587783685(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.49425896G>A
CLNSRC
CLNACC RCV000146159.1,