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rs727503987

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503987(C;T)
Make rs727503987(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49049834
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503987
ebirs727503987
HLIrs727503987
Exacrs727503987
Varsomers727503987
Maprs727503987
PheGenIrs727503987
hapmaprs727503987
1000 genomesrs727503987
hgdprs727503987
ensemblrs727503987
gopubmedrs727503987
geneviewrs727503987
scholarrs727503987
googlers727503987
pharmgkbrs727503987
gwascentralrs727503987
openSNPrs727503987
23andMers727503987
23andMe allrs727503987
SNP Nexus

SNPshotrs727503987
SNPdbers727503987
MSV3drs727503987
GWAS Ctlgrs727503987
Max Magnitude0
ClinVar
Risk rs727503987(T;T)
Alt rs727503987(T;T)
Reference rs727503987(C;C)
Significance Pathogenic
Disease not provided Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN not provided Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49443617G>A
CLNSRC
CLNACC RCV000153419.2, RCV000174080.1,