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rs398123732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATT;TATT) 0 common in clinvar
Make rs398123732(-;-)
Make rs398123732(-;TATT)
ReferenceGRCh38 38.1/141
Chromosome12
Position49024674
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123732
ebirs398123732
HLIrs398123732
Exacrs398123732
Varsomers398123732
Maprs398123732
PheGenIrs398123732
hapmaprs398123732
1000 genomesrs398123732
hgdprs398123732
ensemblrs398123732
gopubmedrs398123732
geneviewrs398123732
scholarrs398123732
googlers398123732
pharmgkbrs398123732
gwascentralrs398123732
openSNPrs398123732
23andMers398123732
23andMe allrs398123732
SNP Nexus

SNPshotrs398123732
SNPdbers398123732
MSV3drs398123732
GWAS Ctlgrs398123732
Max Magnitude0
ClinVar
Risk rs398123732(;)
Alt rs398123732(;)
Reference rs398123732(TATT;TATT)
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.49418457_49418460delAATA
CLNSRC ClinVar
CLNACC RCV000080151.3, RCV000179068.1,