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rs1057518186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518186(-;-)
Make rs1057518186(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position49038660
GeneKMT2D
is asnp
is mentioned by
dbSNPrs1057518186
dbSNP (old)rs1057518186
ClinGenrs1057518186
ebirs1057518186
HLIrs1057518186
Exacrs1057518186
Gnomadrs1057518186
Varsomers1057518186
Maprs1057518186
PheGenIrs1057518186
Biobankrs1057518186
1000 genomesrs1057518186
hgdprs1057518186
ensemblrs1057518186
gopubmedrs1057518186
geneviewrs1057518186
scholarrs1057518186
googlers1057518186
pharmgkbrs1057518186
gwascentralrs1057518186
openSNPrs1057518186
23andMers1057518186
23andMe allrs1057518186
SNPshotrs1057518186
SNPdbers1057518186
MSV3drs1057518186
GWAS Ctlgrs1057518186
Max Magnitude0
ClinVar
Risk rs1057518186(-;-)
Alt rs1057518186(-;-)
Reference Rs1057518186(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene KMT2D
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.49432443delC
CLNSRC
CLNACC RCV000413744.1,