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rs587783702

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783702(G;T)
Make rs587783702(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49022151
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783702
ebirs587783702
HLIrs587783702
Exacrs587783702
Varsomers587783702
Maprs587783702
PheGenIrs587783702
hapmaprs587783702
1000 genomesrs587783702
hgdprs587783702
ensemblrs587783702
gopubmedrs587783702
geneviewrs587783702
scholarrs587783702
googlers587783702
pharmgkbrs587783702
gwascentralrs587783702
openSNPrs587783702
23andMers587783702
23andMe allrs587783702
SNP Nexus

SNPshotrs587783702
SNPdbers587783702
MSV3drs587783702
GWAS Ctlgrs587783702
Max Magnitude0
ClinVar
Risk rs587783702(T;T)
Alt rs587783702(T;T)
Reference rs587783702(G;G)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49415934C>A
CLNSRC
CLNACC RCV000146184.2,