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rs794727342

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727342(A;T)
Make rs794727342(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49044257
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727342
ebirs794727342
HLIrs794727342
Exacrs794727342
Varsomers794727342
Maprs794727342
PheGenIrs794727342
hapmaprs794727342
1000 genomesrs794727342
hgdprs794727342
ensemblrs794727342
gopubmedrs794727342
geneviewrs794727342
scholarrs794727342
googlers794727342
pharmgkbrs794727342
gwascentralrs794727342
openSNPrs794727342
23andMers794727342
23andMe allrs794727342
SNP Nexus

SNPshotrs794727342
SNPdbers794727342
MSV3drs794727342
GWAS Ctlgrs794727342
Max Magnitude0
ClinVar
Risk rs794727342(T;T)
Alt rs794727342(T;T)
Reference rs794727342(A;A)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49438040T>A
CLNSRC
CLNACC RCV000176195.1,