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rs587783683

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783683(-;-)
Make rs587783683(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49033319
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783683
ebirs587783683
HLIrs587783683
Exacrs587783683
Varsomers587783683
Maprs587783683
PheGenIrs587783683
hapmaprs587783683
1000 genomesrs587783683
hgdprs587783683
ensemblrs587783683
gopubmedrs587783683
geneviewrs587783683
scholarrs587783683
googlers587783683
pharmgkbrs587783683
gwascentralrs587783683
openSNPrs587783683
23andMers587783683
23andMe allrs587783683
SNP Nexus

SNPshotrs587783683
SNPdbers587783683
MSV3drs587783683
GWAS Ctlgrs587783683
Max Magnitude0
ClinVar
Risk rs587783683(;)
Alt rs587783683(;)
Reference rs587783683(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.49427102delG
CLNSRC
CLNACC RCV000146154.1,