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rs587783689

From SNPedia

Orientationminus
Geno Mag Summary
(ACCT;ACCT) 0 common in clinvar
Make rs587783689(-;-)
Make rs587783689(-;ACCT)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49052351
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783689
ebirs587783689
HLIrs587783689
Exacrs587783689
Varsomers587783689
Maprs587783689
PheGenIrs587783689
hapmaprs587783689
1000 genomesrs587783689
hgdprs587783689
ensemblrs587783689
gopubmedrs587783689
geneviewrs587783689
scholarrs587783689
googlers587783689
pharmgkbrs587783689
gwascentralrs587783689
openSNPrs587783689
23andMers587783689
23andMe allrs587783689
SNP Nexus

SNPshotrs587783689
SNPdbers587783689
MSV3drs587783689
GWAS Ctlgrs587783689
Max Magnitude0
ClinVar
Risk rs587783689(;)
Alt rs587783689(;)
Reference rs587783689(ACCT;ACCT)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49446134_49446137delAGGT
CLNSRC
CLNACC RCV000146167.1,