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rs587783708

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783708(G;T)
Make rs587783708(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49054672
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783708
ebirs587783708
HLIrs587783708
Exacrs587783708
Varsomers587783708
Maprs587783708
PheGenIrs587783708
hapmaprs587783708
1000 genomesrs587783708
hgdprs587783708
ensemblrs587783708
gopubmedrs587783708
geneviewrs587783708
scholarrs587783708
googlers587783708
pharmgkbrs587783708
gwascentralrs587783708
openSNPrs587783708
23andMers587783708
23andMe allrs587783708
SNP Nexus

SNPshotrs587783708
SNPdbers587783708
MSV3drs587783708
GWAS Ctlgrs587783708
Max Magnitude0
ClinVar
Risk rs587783708(T;T)
Alt rs587783708(T;T)
Reference rs587783708(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.49448455C>A
CLNSRC
CLNACC RCV000146197.1,