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rs1060499552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499552(C;T)
Make rs1060499552(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49033895
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1060499552
dbSNP (old)rs1060499552
ClinGenrs1060499552
ebirs1060499552
HLIrs1060499552
Exacrs1060499552
Gnomadrs1060499552
Varsomers1060499552
LitVarrs1060499552
Maprs1060499552
PheGenIrs1060499552
Biobankrs1060499552
1000 genomesrs1060499552
hgdprs1060499552
ensemblrs1060499552
gopubmedrs1060499552
geneviewrs1060499552
scholarrs1060499552
googlers1060499552
pharmgkbrs1060499552
gwascentralrs1060499552
openSNPrs1060499552
23andMers1060499552
23andMe allrs1060499552
SNPshotrs1060499552
SNPdbers1060499552
MSV3drs1060499552
GWAS Ctlgrs1060499552
Max Magnitude0
ClinVar
Risk rs1060499552(T;T)
Alt rs1060499552(T;T)
Reference Rs1060499552(C;C)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 1
HGVS NC_000012.11:g.49427678G>A
CLNSRC
CLNACC RCV000477744.1,