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rs398123743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATCAGCGGAGGC;TATCAGCGGAGGC) 0 common in clinvar
Make rs398123743(-;-)
Make rs398123743(-;TATCAGCGGAGGC)
ReferenceGRCh38 38.1/141
Chromosome12
Position49049742
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123743
ebirs398123743
HLIrs398123743
Exacrs398123743
Varsomers398123743
Maprs398123743
PheGenIrs398123743
hapmaprs398123743
1000 genomesrs398123743
hgdprs398123743
ensemblrs398123743
gopubmedrs398123743
geneviewrs398123743
scholarrs398123743
googlers398123743
pharmgkbrs398123743
gwascentralrs398123743
openSNPrs398123743
23andMers398123743
23andMe allrs398123743
SNP Nexus

SNPshotrs398123743
SNPdbers398123743
MSV3drs398123743
GWAS Ctlgrs398123743
Max Magnitude0
ClinVar
Risk rs398123743(;)
Alt rs398123743(;)
Reference rs398123743(TATCAGCGGAGGC;TATCAGCGGAGGC)
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.49443525_49443537delGCCTCCGCTGATA
CLNSRC ClinVar
CLNACC RCV000080175.3, RCV000174079.1,