Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519284(A;A)
Make rs1057519284(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35728145
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519284
dbSNP (old)rs1057519284
ClinGenrs1057519284
ebirs1057519284
HLIrs1057519284
Exacrs1057519284
Gnomadrs1057519284
Varsomers1057519284
Maprs1057519284
PheGenIrs1057519284
Biobankrs1057519284
1000 genomesrs1057519284
hgdprs1057519284
ensemblrs1057519284
gopubmedrs1057519284
geneviewrs1057519284
scholarrs1057519284
googlers1057519284
pharmgkbrs1057519284
gwascentralrs1057519284
openSNPrs1057519284
23andMers1057519284
23andMe allrs1057519284
SNPshotrs1057519284
SNPdbers1057519284
MSV3drs1057519284
GWAS Ctlgrs1057519284
Max Magnitude0
ClinVar
Risk rs1057519284(A;A)
Alt rs1057519284(A;A)
Reference Rs1057519284(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36219046C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415597.1,