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rs1057520740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520740(C;C)
Make rs1057520740(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49046756
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057520740
dbSNP (old)rs1057520740
ClinGenrs1057520740
ebirs1057520740
HLIrs1057520740
Exacrs1057520740
Gnomadrs1057520740
Varsomers1057520740
Maprs1057520740
PheGenIrs1057520740
Biobankrs1057520740
1000 genomesrs1057520740
hgdprs1057520740
ensemblrs1057520740
gopubmedrs1057520740
geneviewrs1057520740
scholarrs1057520740
googlers1057520740
pharmgkbrs1057520740
gwascentralrs1057520740
openSNPrs1057520740
23andMers1057520740
23andMe allrs1057520740
SNPshotrs1057520740
SNPdbers1057520740
MSV3drs1057520740
GWAS Ctlgrs1057520740
Max Magnitude0
ClinVar
Risk rs1057520740(C;C)
Alt rs1057520740(C;C)
Reference Rs1057520740(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49440539C>G
CLNSRC
CLNACC RCV000442417.1,