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rs587783713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783713(-;-)
Make rs587783713(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49049893
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783713
dbSNP (old)rs587783713
ClinGenrs587783713
ebirs587783713
HLIrs587783713
Exacrs587783713
Varsomers587783713
Maprs587783713
PheGenIrs587783713
Biobankrs587783713
1000 genomesrs587783713
hgdprs587783713
ensemblrs587783713
gopubmedrs587783713
geneviewrs587783713
scholarrs587783713
googlers587783713
pharmgkbrs587783713
gwascentralrs587783713
openSNPrs587783713
23andMers587783713
23andMe allrs587783713
SNP Nexus

SNPshotrs587783713
SNPdbers587783713
MSV3drs587783713
GWAS Ctlgrs587783713
Max Magnitude0
ClinVar
Risk rs587783713(-;-)
Alt rs587783713(-;-)
Reference Rs587783713(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49443676delG
CLNSRC
CLNACC RCV000146202.1,