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rs587783682

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783682(C;T)
Make rs587783682(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49033415
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783682
ebirs587783682
HLIrs587783682
Exacrs587783682
Varsomers587783682
Maprs587783682
PheGenIrs587783682
hapmaprs587783682
1000 genomesrs587783682
hgdprs587783682
ensemblrs587783682
gopubmedrs587783682
geneviewrs587783682
scholarrs587783682
googlers587783682
pharmgkbrs587783682
gwascentralrs587783682
openSNPrs587783682
23andMers587783682
23andMe allrs587783682
SNP Nexus

SNPshotrs587783682
SNPdbers587783682
MSV3drs587783682
GWAS Ctlgrs587783682
Max Magnitude0
ClinVar
Risk rs587783682(T;T)
Alt rs587783682(T;T)
Reference rs587783682(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.49427198G>A
CLNSRC
CLNACC RCV000146153.1,