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rs1060499669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499669(C;T)
Make rs1060499669(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49032044
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1060499669
dbSNP (old)rs1060499669
ClinGenrs1060499669
ebirs1060499669
HLIrs1060499669
Exacrs1060499669
Gnomadrs1060499669
Varsomers1060499669
Maprs1060499669
PheGenIrs1060499669
Biobankrs1060499669
1000 genomesrs1060499669
hgdprs1060499669
ensemblrs1060499669
gopubmedrs1060499669
geneviewrs1060499669
scholarrs1060499669
googlers1060499669
pharmgkbrs1060499669
gwascentralrs1060499669
openSNPrs1060499669
23andMers1060499669
23andMe allrs1060499669
SNPshotrs1060499669
SNPdbers1060499669
MSV3drs1060499669
GWAS Ctlgrs1060499669
Max Magnitude0
ClinVar
Risk rs1060499669(T;T)
Alt rs1060499669(T;T)
Reference Rs1060499669(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49425827G>A
CLNSRC
CLNACC RCV000449566.1,