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rs1057519283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519283(C;T)
Make rs1057519283(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35721037
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519283
dbSNP (old)rs1057519283
ClinGenrs1057519283
ebirs1057519283
HLIrs1057519283
Exacrs1057519283
Gnomadrs1057519283
Varsomers1057519283
LitVarrs1057519283
Maprs1057519283
PheGenIrs1057519283
Biobankrs1057519283
1000 genomesrs1057519283
hgdprs1057519283
ensemblrs1057519283
gopubmedrs1057519283
geneviewrs1057519283
scholarrs1057519283
googlers1057519283
pharmgkbrs1057519283
gwascentralrs1057519283
openSNPrs1057519283
23andMers1057519283
23andMe allrs1057519283
SNPshotrs1057519283
SNPdbers1057519283
MSV3drs1057519283
GWAS Ctlgrs1057519283
Max Magnitude0
ClinVar
Risk rs1057519283(T;T)
Alt rs1057519283(T;T)
Reference Rs1057519283(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36211939C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415564.1,