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rs727503986

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503986(G;T)
Make rs727503986(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49049116
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503986
ebirs727503986
HLIrs727503986
Exacrs727503986
Varsomers727503986
Maprs727503986
PheGenIrs727503986
hapmaprs727503986
1000 genomesrs727503986
hgdprs727503986
ensemblrs727503986
gopubmedrs727503986
geneviewrs727503986
scholarrs727503986
googlers727503986
pharmgkbrs727503986
gwascentralrs727503986
openSNPrs727503986
23andMers727503986
23andMe allrs727503986
SNP Nexus

SNPshotrs727503986
SNPdbers727503986
MSV3drs727503986
GWAS Ctlgrs727503986
Max Magnitude0
ClinVar
Risk rs727503986(T;T)
Alt rs727503986(T;T)
Reference rs727503986(G;G)
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.49442899C>A
CLNSRC
CLNACC RCV000153417.2, RCV000174315.1,