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rs587783719

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783719(-;-)
Make rs587783719(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49045922
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783719
ebirs587783719
HLIrs587783719
Exacrs587783719
Varsomers587783719
Maprs587783719
PheGenIrs587783719
hapmaprs587783719
1000 genomesrs587783719
hgdprs587783719
ensemblrs587783719
gopubmedrs587783719
geneviewrs587783719
scholarrs587783719
googlers587783719
pharmgkbrs587783719
gwascentralrs587783719
openSNPrs587783719
23andMers587783719
23andMe allrs587783719
SNP Nexus

SNPshotrs587783719
SNPdbers587783719
MSV3drs587783719
GWAS Ctlgrs587783719
Max Magnitude0
ClinVar
Risk rs587783719(;)
Alt rs587783719(;)
Reference rs587783719(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49439705delG
CLNSRC
CLNACC RCV000146215.1,