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rs587783703

From SNPedia

Orientationminus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
Make rs587783703(-;-)
Make rs587783703(-;AACT)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49022123
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783703
ebirs587783703
HLIrs587783703
Exacrs587783703
Varsomers587783703
Maprs587783703
PheGenIrs587783703
hapmaprs587783703
1000 genomesrs587783703
hgdprs587783703
ensemblrs587783703
gopubmedrs587783703
geneviewrs587783703
scholarrs587783703
googlers587783703
pharmgkbrs587783703
gwascentralrs587783703
openSNPrs587783703
23andMers587783703
23andMe allrs587783703
SNP Nexus

SNPshotrs587783703
SNPdbers587783703
MSV3drs587783703
GWAS Ctlgrs587783703
Max Magnitude0
ClinVar
Risk rs587783703(;)
Alt rs587783703(;)
Reference rs587783703(AACT;AACT)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49415906_49415909delAGTT
CLNSRC
CLNACC RCV000146185.2,