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rs587783695

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783695(C;T)
Make rs587783695(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49026905
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783695
ebirs587783695
HLIrs587783695
Exacrs587783695
Varsomers587783695
Maprs587783695
PheGenIrs587783695
hapmaprs587783695
1000 genomesrs587783695
hgdprs587783695
ensemblrs587783695
gopubmedrs587783695
geneviewrs587783695
scholarrs587783695
googlers587783695
pharmgkbrs587783695
gwascentralrs587783695
openSNPrs587783695
23andMers587783695
23andMe allrs587783695
SNP Nexus

SNPshotrs587783695
SNPdbers587783695
MSV3drs587783695
GWAS Ctlgrs587783695
Max Magnitude0
ClinVar
Risk rs587783695(T;T)
Alt rs587783695(T;T)
Reference rs587783695(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome not provided
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome not provided
Reversed 1
HGVS NC_000012.11:g.49420688G>A
CLNSRC HGMD
CLNACC RCV000146174.2, RCV000153408.2,