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rs35584294

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs35584294(-;-)
Make rs35584294(-;A)
Make rs35584294(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49040288
GeneKMT2D
is asnp
is mentioned by
dbSNPrs35584294
ebirs35584294
HLIrs35584294
Exacrs35584294
Varsomers35584294
Maprs35584294
PheGenIrs35584294
hapmaprs35584294
1000 genomesrs35584294
hgdprs35584294
ensemblrs35584294
gopubmedrs35584294
geneviewrs35584294
scholarrs35584294
googlers35584294
pharmgkbrs35584294
gwascentralrs35584294
openSNPrs35584294
23andMers35584294
23andMe allrs35584294
SNP Nexus

SNPshotrs35584294
SNPdbers35584294
MSV3drs35584294
GWAS Ctlgrs35584294
Max Magnitude0
ClinVar
Risk rs35584294(A;A)
Alt rs35584294(A;A)
Reference rs35584294(;)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 0
HGVS NC_000012.11:g.49434072dupA
CLNSRC
CLNACC RCV000172952.1,