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rs587783711

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783711(C;T)
Make rs587783711(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49050467
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783711
ebirs587783711
HLIrs587783711
Exacrs587783711
Varsomers587783711
Maprs587783711
PheGenIrs587783711
hapmaprs587783711
1000 genomesrs587783711
hgdprs587783711
ensemblrs587783711
gopubmedrs587783711
geneviewrs587783711
scholarrs587783711
googlers587783711
pharmgkbrs587783711
gwascentralrs587783711
openSNPrs587783711
23andMers587783711
23andMe allrs587783711
SNP Nexus

SNPshotrs587783711
SNPdbers587783711
MSV3drs587783711
GWAS Ctlgrs587783711
Max Magnitude0
ClinVar
Risk rs587783711(T;T)
Alt rs587783711(T;T)
Reference rs587783711(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.49444250G>A
CLNSRC
CLNACC RCV000146200.2,