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rs587783698

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783698(C;T)
Make rs587783698(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49024887
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783698
ebirs587783698
HLIrs587783698
Exacrs587783698
Varsomers587783698
Maprs587783698
PheGenIrs587783698
hapmaprs587783698
1000 genomesrs587783698
hgdprs587783698
ensemblrs587783698
gopubmedrs587783698
geneviewrs587783698
scholarrs587783698
googlers587783698
pharmgkbrs587783698
gwascentralrs587783698
openSNPrs587783698
23andMers587783698
23andMe allrs587783698
SNP Nexus

SNPshotrs587783698
SNPdbers587783698
MSV3drs587783698
GWAS Ctlgrs587783698
Max Magnitude0
ClinVar
Risk rs587783698(T;T)
Alt rs587783698(T;T)
Reference rs587783698(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.49418670G>A
CLNSRC
CLNACC RCV000146180.1,