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rs1057519278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519278(-;-)
Make rs1057519278(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35732955
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519278
dbSNP (old)rs1057519278
ClinGenrs1057519278
ebirs1057519278
HLIrs1057519278
Exacrs1057519278
Gnomadrs1057519278
Varsomers1057519278
Maprs1057519278
PheGenIrs1057519278
Biobankrs1057519278
1000 genomesrs1057519278
hgdprs1057519278
ensemblrs1057519278
gopubmedrs1057519278
geneviewrs1057519278
scholarrs1057519278
googlers1057519278
pharmgkbrs1057519278
gwascentralrs1057519278
openSNPrs1057519278
23andMers1057519278
23andMe allrs1057519278
SNPshotrs1057519278
SNPdbers1057519278
MSV3drs1057519278
GWAS Ctlgrs1057519278
Max Magnitude0
ClinVar
Risk rs1057519278(-;-)
Alt rs1057519278(-;-)
Reference Rs1057519278(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36223856delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415586.1,