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rs794727548

From SNPedia

Orientationminus
Make rs794727548(-;-)
Make rs794727548(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49040394
GeneKMT2D
is asnp
is mentioned by
dbSNPrs794727548
ebirs794727548
HLIrs794727548
Exacrs794727548
Varsomers794727548
Maprs794727548
PheGenIrs794727548
hapmaprs794727548
1000 genomesrs794727548
hgdprs794727548
ensemblrs794727548
gopubmedrs794727548
geneviewrs794727548
scholarrs794727548
googlers794727548
pharmgkbrs794727548
gwascentralrs794727548
openSNPrs794727548
23andMers794727548
23andMe allrs794727548
SNP Nexus

SNPshotrs794727548
SNPdbers794727548
MSV3drs794727548
GWAS Ctlgrs794727548
Max Magnitude
ClinVar
Risk rs794727548(;)
Alt rs794727548(;)
Reference rs794727548(TC;TC)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49434177_49434178delGA
CLNSRC
CLNACC RCV000177548.1,