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rs587783691

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783691(-;-)
Make rs587783691(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49031187
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783691
ebirs587783691
HLIrs587783691
Exacrs587783691
Varsomers587783691
Maprs587783691
PheGenIrs587783691
hapmaprs587783691
1000 genomesrs587783691
hgdprs587783691
ensemblrs587783691
gopubmedrs587783691
geneviewrs587783691
scholarrs587783691
googlers587783691
pharmgkbrs587783691
gwascentralrs587783691
openSNPrs587783691
23andMers587783691
23andMe allrs587783691
SNP Nexus

SNPshotrs587783691
SNPdbers587783691
MSV3drs587783691
GWAS Ctlgrs587783691
Max Magnitude0
ClinVar
Risk rs587783691(;)
Alt rs587783691(;)
Reference rs587783691(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.49424970delG
CLNSRC
CLNACC RCV000146169.1,