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rs587783704

From SNPedia

Orientationminus
Geno Mag Summary
(ATC;ATC) 0 common in clinvar
Make rs587783704(-;-)
Make rs587783704(-;ATC)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49022073
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783704
ebirs587783704
HLIrs587783704
Exacrs587783704
Varsomers587783704
Maprs587783704
PheGenIrs587783704
hapmaprs587783704
1000 genomesrs587783704
hgdprs587783704
ensemblrs587783704
gopubmedrs587783704
geneviewrs587783704
scholarrs587783704
googlers587783704
pharmgkbrs587783704
gwascentralrs587783704
openSNPrs587783704
23andMers587783704
23andMe allrs587783704
SNP Nexus

SNPshotrs587783704
SNPdbers587783704
MSV3drs587783704
GWAS Ctlgrs587783704
Max Magnitude0
ClinVar
Risk rs587783704(;)
Alt rs587783704(;)
Reference rs587783704(ATC;ATC)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49415856_49415858delGAT
CLNSRC
CLNACC RCV000146186.1,