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rs587783712

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783712(C;T)
Make rs587783712(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49050035
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783712
ebirs587783712
HLIrs587783712
Exacrs587783712
Varsomers587783712
Maprs587783712
PheGenIrs587783712
hapmaprs587783712
1000 genomesrs587783712
hgdprs587783712
ensemblrs587783712
gopubmedrs587783712
geneviewrs587783712
scholarrs587783712
googlers587783712
pharmgkbrs587783712
gwascentralrs587783712
openSNPrs587783712
23andMers587783712
23andMe allrs587783712
SNP Nexus

SNPshotrs587783712
SNPdbers587783712
MSV3drs587783712
GWAS Ctlgrs587783712
Max Magnitude0
ClinVar
Risk rs587783712(T;T)
Alt rs587783712(T;T)
Reference rs587783712(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.49443818G>A
CLNSRC
CLNACC RCV000146201.1,