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rs727503988

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503988(A;A)
Make rs727503988(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49050885
GeneKMT2D
is asnp
is mentioned by
dbSNPrs727503988
ebirs727503988
HLIrs727503988
Exacrs727503988
Varsomers727503988
Maprs727503988
PheGenIrs727503988
hapmaprs727503988
1000 genomesrs727503988
hgdprs727503988
ensemblrs727503988
gopubmedrs727503988
geneviewrs727503988
scholarrs727503988
googlers727503988
pharmgkbrs727503988
gwascentralrs727503988
openSNPrs727503988
23andMers727503988
23andMe allrs727503988
SNP Nexus

SNPshotrs727503988
SNPdbers727503988
MSV3drs727503988
GWAS Ctlgrs727503988
Max Magnitude0
ClinVar
Risk rs727503988(A;A)
Alt rs727503988(A;A)
Reference rs727503988(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.49444668C>T
CLNSRC
CLNACC RCV000153420.2, RCV000173774.1,