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rs587783715

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783715(-;-)
Make rs587783715(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49047980
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783715
ebirs587783715
HLIrs587783715
Exacrs587783715
Varsomers587783715
Maprs587783715
PheGenIrs587783715
hapmaprs587783715
1000 genomesrs587783715
hgdprs587783715
ensemblrs587783715
gopubmedrs587783715
geneviewrs587783715
scholarrs587783715
googlers587783715
pharmgkbrs587783715
gwascentralrs587783715
openSNPrs587783715
23andMers587783715
23andMe allrs587783715
SNP Nexus

SNPshotrs587783715
SNPdbers587783715
MSV3drs587783715
GWAS Ctlgrs587783715
Max Magnitude0
ClinVar
Risk rs587783715(;)
Alt rs587783715(;)
Reference rs587783715(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.49441763delG
CLNSRC
CLNACC RCV000146211.1,