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rs797045663

From SNPedia

Orientationminus
Make rs797045663(-;-)
Make rs797045663(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49049997
GeneKMT2D
is asnp
is mentioned by
dbSNPrs797045663
ebirs797045663
HLIrs797045663
Exacrs797045663
Varsomers797045663
Maprs797045663
PheGenIrs797045663
hapmaprs797045663
1000 genomesrs797045663
hgdprs797045663
ensemblrs797045663
gopubmedrs797045663
geneviewrs797045663
scholarrs797045663
googlers797045663
pharmgkbrs797045663
gwascentralrs797045663
openSNPrs797045663
23andMers797045663
23andMe allrs797045663
SNP Nexus

SNPshotrs797045663
SNPdbers797045663
MSV3drs797045663
GWAS Ctlgrs797045663
Max Magnitude
ClinVar
Risk rs797045663(;)
Alt rs797045663(;)
Reference rs797045663(C;C)
Significance Pathogenic
Disease Kabuki make-up syndrome
Variation info
Gene KMT2D
CLNDBN Kabuki make-up syndrome
Reversed 1
HGVS NC_000012.11:g.49443780delG
CLNSRC
CLNACC RCV000194782.1,