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rs1057520167

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520167(C;C)
Make rs1057520167(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49055323
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057520167
dbSNP (old)rs1057520167
ClinGenrs1057520167
ebirs1057520167
HLIrs1057520167
Exacrs1057520167
Gnomadrs1057520167
Varsomers1057520167
Maprs1057520167
PheGenIrs1057520167
Biobankrs1057520167
1000 genomesrs1057520167
hgdprs1057520167
ensemblrs1057520167
gopubmedrs1057520167
geneviewrs1057520167
scholarrs1057520167
googlers1057520167
pharmgkbrs1057520167
gwascentralrs1057520167
openSNPrs1057520167
23andMers1057520167
23andMe allrs1057520167
SNPshotrs1057520167
SNPdbers1057520167
MSV3drs1057520167
GWAS Ctlgrs1057520167
Max Magnitude0
ClinVar
Risk rs1057520167(C;C)
Alt rs1057520167(C;C)
Reference Rs1057520167(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49449106A>G
CLNSRC
CLNACC RCV000444887.1,