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rs797045669

From SNPedia

Orientationminus
Make rs797045669(-;-)
Make rs797045669(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49041928
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045669
ebirs797045669
HLIrs797045669
Exacrs797045669
Varsomers797045669
Maprs797045669
PheGenIrs797045669
hapmaprs797045669
1000 genomesrs797045669
hgdprs797045669
ensemblrs797045669
gopubmedrs797045669
geneviewrs797045669
scholarrs797045669
googlers797045669
pharmgkbrs797045669
gwascentralrs797045669
openSNPrs797045669
23andMers797045669
23andMe allrs797045669
SNP Nexus

SNPshotrs797045669
SNPdbers797045669
MSV3drs797045669
GWAS Ctlgrs797045669
Max Magnitude
ClinVar
Risk rs797045669(;)
Alt rs797045669(;)
Reference rs797045669(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.49435711delC
CLNSRC
CLNACC RCV000193310.1,