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rs1057519285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519285(C;T)
Make rs1057519285(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35737262
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519285
dbSNP (classic)rs1057519285
ClinGenrs1057519285
ebirs1057519285
HLIrs1057519285
Exacrs1057519285
Gnomadrs1057519285
Varsomers1057519285
LitVarrs1057519285
Maprs1057519285
PheGenIrs1057519285
Biobankrs1057519285
1000 genomesrs1057519285
hgdprs1057519285
ensemblrs1057519285
geneviewrs1057519285
scholarrs1057519285
googlers1057519285
pharmgkbrs1057519285
gwascentralrs1057519285
openSNPrs1057519285
23andMers1057519285
23andMe allrs1057519285
SNPshotrs1057519285
SNPdbers1057519285
MSV3drs1057519285
GWAS Ctlgrs1057519285
Max Magnitude0
ClinVar
Risk rs1057519285(T;T)
Alt rs1057519285(T;T)
Reference Rs1057519285(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36228163C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415537.1,