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rs756471180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs756471180(-;C)
Make rs756471180(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49048032
GeneKMT2D
is asnp
is mentioned by
dbSNPrs756471180
ClinGenrs756471180
ebirs756471180
HLIrs756471180
Exacrs756471180
Varsomers756471180
Maprs756471180
PheGenIrs756471180
hapmaprs756471180
1000 genomesrs756471180
hgdprs756471180
ensemblrs756471180
gopubmedrs756471180
geneviewrs756471180
scholarrs756471180
googlers756471180
pharmgkbrs756471180
gwascentralrs756471180
openSNPrs756471180
23andMers756471180
23andMe allrs756471180
SNP Nexus

SNPshotrs756471180
SNPdbers756471180
MSV3drs756471180
GWAS Ctlgrs756471180
Max Magnitude0
ClinVar
Risk rs756471180(C;C)
Alt rs756471180(C;C)
Reference Rs756471180(-;-)
Significance Pathogenic
Disease Kabuki syndrome 1
Variation info
Gene KMT2D
CLNDBN Kabuki syndrome 1
Reversed 0
HGVS NC_000012.11:g.49441816dupC
CLNSRC
CLNACC RCV000174739.1,