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rs587783697

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783697(A;A)
Make rs587783697(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49024940
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783697
ebirs587783697
HLIrs587783697
Exacrs587783697
Varsomers587783697
Maprs587783697
PheGenIrs587783697
hapmaprs587783697
1000 genomesrs587783697
hgdprs587783697
ensemblrs587783697
gopubmedrs587783697
geneviewrs587783697
scholarrs587783697
googlers587783697
pharmgkbrs587783697
gwascentralrs587783697
openSNPrs587783697
23andMers587783697
23andMe allrs587783697
SNP Nexus

SNPshotrs587783697
SNPdbers587783697
MSV3drs587783697
GWAS Ctlgrs587783697
Max Magnitude0
ClinVar
Risk rs587783697(A;A)
Alt rs587783697(A;A)
Reference rs587783697(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49418723C>T
CLNSRC
CLNACC RCV000146179.1,