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rs587783700

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783700(A;T)
Make rs587783700(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49022281
GeneKMT2D
is asnp
is mentioned by
dbSNPrs587783700
ebirs587783700
HLIrs587783700
Exacrs587783700
Varsomers587783700
Maprs587783700
PheGenIrs587783700
hapmaprs587783700
1000 genomesrs587783700
hgdprs587783700
ensemblrs587783700
gopubmedrs587783700
geneviewrs587783700
scholarrs587783700
googlers587783700
pharmgkbrs587783700
gwascentralrs587783700
openSNPrs587783700
23andMers587783700
23andMe allrs587783700
SNP Nexus

SNPshotrs587783700
SNPdbers587783700
MSV3drs587783700
GWAS Ctlgrs587783700
Max Magnitude0
ClinVar
Risk rs587783700(T;T)
Alt rs587783700(T;T)
Reference rs587783700(A;A)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49416064T>A
CLNSRC
CLNACC RCV000146182.1,