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rs398123699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCTGTGT;TCTGTGT) 0 common in clinvar
Make rs398123699(CGCAAGTCACG;CGCAAGTCACG)
Make rs398123699(CGCAAGTCACG;TCTGTGT)
ReferenceGRCh38 38.1/141
Chromosome12
Position49034178
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123699
ebirs398123699
HLIrs398123699
Exacrs398123699
Varsomers398123699
Maprs398123699
PheGenIrs398123699
hapmaprs398123699
1000 genomesrs398123699
hgdprs398123699
ensemblrs398123699
gopubmedrs398123699
geneviewrs398123699
scholarrs398123699
googlers398123699
pharmgkbrs398123699
gwascentralrs398123699
openSNPrs398123699
23andMers398123699
23andMe allrs398123699
SNP Nexus

SNPshotrs398123699
SNPdbers398123699
MSV3drs398123699
GWAS Ctlgrs398123699
Max Magnitude0
ClinVar
Risk rs398123699(CGCAAGTCACG;CGCAAGTCACG)
Alt rs398123699(CGCAAGTCACG;CGCAAGTCACG)
Reference rs398123699(TCTGTGT;TCTGTGT)
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.49427961_49427967delACACAGAinsCGTGACTTGCG
CLNSRC ClinVar
CLNACC RCV000080100.3, RCV000177937.1,