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rs587783688

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783688(A;A)
Make rs587783688(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49031743
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783688
ebirs587783688
HLIrs587783688
Exacrs587783688
Varsomers587783688
Maprs587783688
PheGenIrs587783688
hapmaprs587783688
1000 genomesrs587783688
hgdprs587783688
ensemblrs587783688
gopubmedrs587783688
geneviewrs587783688
scholarrs587783688
googlers587783688
pharmgkbrs587783688
gwascentralrs587783688
openSNPrs587783688
23andMers587783688
23andMe allrs587783688
SNP Nexus

SNPshotrs587783688
SNPdbers587783688
MSV3drs587783688
GWAS Ctlgrs587783688
Max Magnitude0
ClinVar
Risk rs587783688(A;A)
Alt rs587783688(A;A)
Reference rs587783688(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.49425526G>T
CLNSRC
CLNACC RCV000146164.1,