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rs587783725

From SNPedia

Orientationminus
Geno Mag Summary
(GGGGA;GGGGA) 0 common in clinvar
Make rs587783725(-;-)
Make rs587783725(-;GGGGA)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49041096
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783725
ebirs587783725
HLIrs587783725
Exacrs587783725
Varsomers587783725
Maprs587783725
PheGenIrs587783725
hapmaprs587783725
1000 genomesrs587783725
hgdprs587783725
ensemblrs587783725
gopubmedrs587783725
geneviewrs587783725
scholarrs587783725
googlers587783725
pharmgkbrs587783725
gwascentralrs587783725
openSNPrs587783725
23andMers587783725
23andMe allrs587783725
SNP Nexus

SNPshotrs587783725
SNPdbers587783725
MSV3drs587783725
GWAS Ctlgrs587783725
Max Magnitude0
ClinVar
Risk rs587783725(;)
Alt rs587783725(;)
Reference rs587783725(GGGGA;GGGGA)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49434879_49434883delTCCCC
CLNSRC
CLNACC RCV000146224.1,