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rs587783699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783699(C;T)
Make rs587783699(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49024687
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783699
dbSNP (old)rs587783699
ClinGenrs587783699
ebirs587783699
HLIrs587783699
Exacrs587783699
Gnomadrs587783699
Varsomers587783699
Maprs587783699
PheGenIrs587783699
Biobankrs587783699
1000 genomesrs587783699
hgdprs587783699
ensemblrs587783699
gopubmedrs587783699
geneviewrs587783699
scholarrs587783699
googlers587783699
pharmgkbrs587783699
gwascentralrs587783699
openSNPrs587783699
23andMers587783699
23andMe allrs587783699
SNP Nexus

SNPshotrs587783699
SNPdbers587783699
MSV3drs587783699
GWAS Ctlgrs587783699
Max Magnitude0
ClinVar
Risk rs587783699(T;T)
Alt rs587783699(T;T)
Reference Rs587783699(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49418470G>A
CLNSRC
CLNACC RCV000146181.1,