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rs797045672

From SNPedia

Orientationminus
Make rs797045672(-;-)
Make rs797045672(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49037816
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045672
ebirs797045672
HLIrs797045672
Exacrs797045672
Varsomers797045672
Maprs797045672
PheGenIrs797045672
hapmaprs797045672
1000 genomesrs797045672
hgdprs797045672
ensemblrs797045672
gopubmedrs797045672
geneviewrs797045672
scholarrs797045672
googlers797045672
pharmgkbrs797045672
gwascentralrs797045672
openSNPrs797045672
23andMers797045672
23andMe allrs797045672
SNP Nexus

SNPshotrs797045672
SNPdbers797045672
MSV3drs797045672
GWAS Ctlgrs797045672
Max Magnitude
ClinVar
Risk rs797045672(;)
Alt rs797045672(;)
Reference rs797045672(T;T)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49431599delA
CLNSRC
CLNACC RCV000194379.1,