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rs587783723

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783723(-;-)
Make rs587783723(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49042112
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783723
ebirs587783723
HLIrs587783723
Exacrs587783723
Varsomers587783723
Maprs587783723
PheGenIrs587783723
hapmaprs587783723
1000 genomesrs587783723
hgdprs587783723
ensemblrs587783723
gopubmedrs587783723
geneviewrs587783723
scholarrs587783723
googlers587783723
pharmgkbrs587783723
gwascentralrs587783723
openSNPrs587783723
23andMers587783723
23andMe allrs587783723
SNP Nexus

SNPshotrs587783723
SNPdbers587783723
MSV3drs587783723
GWAS Ctlgrs587783723
Max Magnitude0
ClinVar
Risk rs587783723(;)
Alt rs587783723(;)
Reference rs587783723(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.49435895delG
CLNSRC
CLNACC RCV000146219.1,