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rs1057520722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520722(G;T)
Make rs1057520722(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49043867
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057520722
dbSNP (old)rs1057520722
ClinGenrs1057520722
ebirs1057520722
HLIrs1057520722
Exacrs1057520722
Gnomadrs1057520722
Varsomers1057520722
LitVarrs1057520722
Maprs1057520722
PheGenIrs1057520722
Biobankrs1057520722
1000 genomesrs1057520722
hgdprs1057520722
ensemblrs1057520722
gopubmedrs1057520722
geneviewrs1057520722
scholarrs1057520722
googlers1057520722
pharmgkbrs1057520722
gwascentralrs1057520722
openSNPrs1057520722
23andMers1057520722
23andMe allrs1057520722
SNPshotrs1057520722
SNPdbers1057520722
MSV3drs1057520722
GWAS Ctlgrs1057520722
Max Magnitude0
ClinVar
Risk rs1057520722(T;T)
Alt rs1057520722(T;T)
Reference Rs1057520722(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49437650C>A
CLNSRC
CLNACC RCV000420886.1,