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rs587783687

From SNPedia

Orientationminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs587783687(-;-)
Make rs587783687(-;GA)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49031748
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783687
ebirs587783687
HLIrs587783687
Exacrs587783687
Varsomers587783687
Maprs587783687
PheGenIrs587783687
hapmaprs587783687
1000 genomesrs587783687
hgdprs587783687
ensemblrs587783687
gopubmedrs587783687
geneviewrs587783687
scholarrs587783687
googlers587783687
pharmgkbrs587783687
gwascentralrs587783687
openSNPrs587783687
23andMers587783687
23andMe allrs587783687
SNP Nexus

SNPshotrs587783687
SNPdbers587783687
MSV3drs587783687
GWAS Ctlgrs587783687
Max Magnitude0
ClinVar
Risk rs587783687(;)
Alt rs587783687(;)
Reference rs587783687(GA;GA)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49425531_49425532delTC
CLNSRC
CLNACC RCV000146163.1,