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rs398123751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GACAGCCC;GACAGCCC) 0 common in clinvar
Make rs398123751(-;-)
Make rs398123751(-;GACAGCCC)
ReferenceGRCh38 38.1/141
Chromosome12
Position49042283
GeneKMT2D
is asnp
is mentioned by
dbSNPrs398123751
ebirs398123751
HLIrs398123751
Exacrs398123751
Varsomers398123751
Maprs398123751
PheGenIrs398123751
hapmaprs398123751
1000 genomesrs398123751
hgdprs398123751
ensemblrs398123751
gopubmedrs398123751
geneviewrs398123751
scholarrs398123751
googlers398123751
pharmgkbrs398123751
gwascentralrs398123751
openSNPrs398123751
23andMers398123751
23andMe allrs398123751
SNP Nexus

SNPshotrs398123751
SNPdbers398123751
MSV3drs398123751
GWAS Ctlgrs398123751
Max Magnitude0
ClinVar
Risk rs398123751(;)
Alt rs398123751(;)
Reference rs398123751(GACAGCCC;GACAGCCC)
Significance Other
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.49436066_49436073delGGGCTGTC
CLNSRC ClinVar
CLNACC RCV000080195.3, RCV000172950.2,