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rs587783681

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783681(C;T)
Make rs587783681(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49033442
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783681
ebirs587783681
HLIrs587783681
Exacrs587783681
Varsomers587783681
Maprs587783681
PheGenIrs587783681
hapmaprs587783681
1000 genomesrs587783681
hgdprs587783681
ensemblrs587783681
gopubmedrs587783681
geneviewrs587783681
scholarrs587783681
googlers587783681
pharmgkbrs587783681
gwascentralrs587783681
openSNPrs587783681
23andMers587783681
23andMe allrs587783681
SNP Nexus

SNPshotrs587783681
SNPdbers587783681
MSV3drs587783681
GWAS Ctlgrs587783681
Max Magnitude0
ClinVar
Risk rs587783681(T;T)
Alt rs587783681(T;T)
Reference rs587783681(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.49427225G>A
CLNSRC
CLNACC RCV000146152.1,