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rs587783693

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587783693(-;-)
Make rs587783693(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49030282
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783693
ebirs587783693
HLIrs587783693
Exacrs587783693
Varsomers587783693
Maprs587783693
PheGenIrs587783693
hapmaprs587783693
1000 genomesrs587783693
hgdprs587783693
ensemblrs587783693
gopubmedrs587783693
geneviewrs587783693
scholarrs587783693
googlers587783693
pharmgkbrs587783693
gwascentralrs587783693
openSNPrs587783693
23andMers587783693
23andMe allrs587783693
SNP Nexus

SNPshotrs587783693
SNPdbers587783693
MSV3drs587783693
GWAS Ctlgrs587783693
Max Magnitude0
ClinVar
Risk rs587783693(;)
Alt rs587783693(;)
Reference rs587783693(AG;AG)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49424065_49424066delCT
CLNSRC
CLNACC RCV000146171.1,