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rs793888514

From SNPedia

Orientationminus
Geno Mag Summary
(AATG;AATG) 0 common in clinvar
Make rs793888514(-;-)
Make rs793888514(-;AATG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49026728
GeneKMT2D
is asnp
is mentioned by
dbSNPrs793888514
ebirs793888514
HLIrs793888514
Exacrs793888514
Varsomers793888514
Maprs793888514
PheGenIrs793888514
hapmaprs793888514
1000 genomesrs793888514
hgdprs793888514
ensemblrs793888514
gopubmedrs793888514
geneviewrs793888514
scholarrs793888514
googlers793888514
pharmgkbrs793888514
gwascentralrs793888514
openSNPrs793888514
23andMers793888514
23andMe allrs793888514
SNP Nexus

SNPshotrs793888514
SNPdbers793888514
MSV3drs793888514
GWAS Ctlgrs793888514
Max Magnitude0
ClinVar
Risk rs793888514(;)
Alt rs793888514(;)
Reference rs793888514(AATG;AATG)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49420511_49420514delCATT
CLNSRC
CLNACC RCV000172951.1,