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rs1057519281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519281(C;T)
Make rs1057519281(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35721775
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519281
dbSNP (old)rs1057519281
ClinGenrs1057519281
ebirs1057519281
HLIrs1057519281
Exacrs1057519281
Gnomadrs1057519281
Varsomers1057519281
LitVarrs1057519281
Maprs1057519281
PheGenIrs1057519281
Biobankrs1057519281
1000 genomesrs1057519281
hgdprs1057519281
ensemblrs1057519281
gopubmedrs1057519281
geneviewrs1057519281
scholarrs1057519281
googlers1057519281
pharmgkbrs1057519281
gwascentralrs1057519281
openSNPrs1057519281
23andMers1057519281
23andMe allrs1057519281
SNPshotrs1057519281
SNPdbers1057519281
MSV3drs1057519281
GWAS Ctlgrs1057519281
Max Magnitude0
ClinVar
Risk rs1057519281(T;T)
Alt rs1057519281(T;T)
Reference Rs1057519281(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36212677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415591.1,