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rs587783696

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783696(A;A)
Make rs587783696(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49026771
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783696
ebirs587783696
HLIrs587783696
Exacrs587783696
Varsomers587783696
Maprs587783696
PheGenIrs587783696
hapmaprs587783696
1000 genomesrs587783696
hgdprs587783696
ensemblrs587783696
gopubmedrs587783696
geneviewrs587783696
scholarrs587783696
googlers587783696
pharmgkbrs587783696
gwascentralrs587783696
openSNPrs587783696
23andMers587783696
23andMe allrs587783696
SNP Nexus

SNPshotrs587783696
SNPdbers587783696
MSV3drs587783696
GWAS Ctlgrs587783696
Max Magnitude0
ClinVar
Risk rs587783696(A;A)
Alt rs587783696(A;A)
Reference rs587783696(G;G)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49420554C>T
CLNSRC
CLNACC RCV000146175.1,