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rs587783690

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783690(C;T)
Make rs587783690(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49031255
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783690
ebirs587783690
HLIrs587783690
Exacrs587783690
Varsomers587783690
Maprs587783690
PheGenIrs587783690
hapmaprs587783690
1000 genomesrs587783690
hgdprs587783690
ensemblrs587783690
gopubmedrs587783690
geneviewrs587783690
scholarrs587783690
googlers587783690
pharmgkbrs587783690
gwascentralrs587783690
openSNPrs587783690
23andMers587783690
23andMe allrs587783690
SNP Nexus

SNPshotrs587783690
SNPdbers587783690
MSV3drs587783690
GWAS Ctlgrs587783690
Max Magnitude0
ClinVar
Risk rs587783690(T;T)
Alt rs587783690(T;T)
Reference rs587783690(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.49425038G>A
CLNSRC
CLNACC RCV000146168.1,