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rs183347186

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs183347186(A;A)
Make rs183347186(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position49027234
GeneKMT2D
is asnp
is mentioned by
dbSNPrs183347186
ebirs183347186
HLIrs183347186
Exacrs183347186
Varsomers183347186
Maprs183347186
PheGenIrs183347186
hapmaprs183347186
1000 genomesrs183347186
hgdprs183347186
ensemblrs183347186
gopubmedrs183347186
geneviewrs183347186
scholarrs183347186
googlers183347186
pharmgkbrs183347186
gwascentralrs183347186
openSNPrs183347186
23andMers183347186
23andMe allrs183347186
SNP Nexus

SNPshotrs183347186
SNPdbers183347186
MSV3drs183347186
GWAS Ctlgrs183347186
Max Magnitude0
ClinVar
Risk rs183347186(A;A)
Alt rs183347186(A;A)
Reference rs183347186(G;G)
Significance Probable-Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 0
HGVS NC_000012.11:g.49421017G>A
CLNSRC
CLNACC RCV000172956.1,