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rs587783718

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783718(A;A)
Make rs587783718(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49046422
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783718
ebirs587783718
HLIrs587783718
Exacrs587783718
Varsomers587783718
Maprs587783718
PheGenIrs587783718
hapmaprs587783718
1000 genomesrs587783718
hgdprs587783718
ensemblrs587783718
gopubmedrs587783718
geneviewrs587783718
scholarrs587783718
googlers587783718
pharmgkbrs587783718
gwascentralrs587783718
openSNPrs587783718
23andMers587783718
23andMe allrs587783718
SNP Nexus

SNPshotrs587783718
SNPdbers587783718
MSV3drs587783718
GWAS Ctlgrs587783718
Max Magnitude0
ClinVar
Risk rs587783718(A;A)
Alt rs587783718(A;A)
Reference rs587783718(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.49440205C>T
CLNSRC
CLNACC RCV000146214.1,