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rs587783728

From SNPedia

Orientationminus
Geno Mag Summary
(CCAGC;CCAGC) 0 common in clinvar
Make rs587783728(-;-)
Make rs587783728(-;CCAGC)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49039489
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783728
ebirs587783728
HLIrs587783728
Exacrs587783728
Varsomers587783728
Maprs587783728
PheGenIrs587783728
hapmaprs587783728
1000 genomesrs587783728
hgdprs587783728
ensemblrs587783728
gopubmedrs587783728
geneviewrs587783728
scholarrs587783728
googlers587783728
pharmgkbrs587783728
gwascentralrs587783728
openSNPrs587783728
23andMers587783728
23andMe allrs587783728
SNP Nexus

SNPshotrs587783728
SNPdbers587783728
MSV3drs587783728
GWAS Ctlgrs587783728
Max Magnitude0
ClinVar
Risk rs587783728(;)
Alt rs587783728(;)
Reference rs587783728(CCAGC;CCAGC)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49433272_49433276delGCTGG
CLNSRC
CLNACC RCV000146238.1,