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rs1057519279

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519279(C;T)
Make rs1057519279(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35720980
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519279
dbSNP (old)rs1057519279
ClinGenrs1057519279
ebirs1057519279
HLIrs1057519279
Exacrs1057519279
Gnomadrs1057519279
Varsomers1057519279
Maprs1057519279
PheGenIrs1057519279
Biobankrs1057519279
1000 genomesrs1057519279
hgdprs1057519279
ensemblrs1057519279
gopubmedrs1057519279
geneviewrs1057519279
scholarrs1057519279
googlers1057519279
pharmgkbrs1057519279
gwascentralrs1057519279
openSNPrs1057519279
23andMers1057519279
23andMe allrs1057519279
SNPshotrs1057519279
SNPdbers1057519279
MSV3drs1057519279
GWAS Ctlgrs1057519279
Max Magnitude0
ClinVar
Risk rs1057519279(T;T)
Alt rs1057519279(T;T)
Reference Rs1057519279(C;C)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36211882C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415516.1,