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rs1057519280

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519280(A;G)
Make rs1057519280(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35733761
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519280
dbSNP (old)rs1057519280
ClinGenrs1057519280
ebirs1057519280
HLIrs1057519280
Exacrs1057519280
Gnomadrs1057519280
Varsomers1057519280
Maprs1057519280
PheGenIrs1057519280
Biobankrs1057519280
1000 genomesrs1057519280
hgdprs1057519280
ensemblrs1057519280
gopubmedrs1057519280
geneviewrs1057519280
scholarrs1057519280
googlers1057519280
pharmgkbrs1057519280
gwascentralrs1057519280
openSNPrs1057519280
23andMers1057519280
23andMe allrs1057519280
SNPshotrs1057519280
SNPdbers1057519280
MSV3drs1057519280
GWAS Ctlgrs1057519280
Max Magnitude0
ClinVar
Risk rs1057519280(G;G)
Alt rs1057519280(G;G)
Reference Rs1057519280(A;A)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36224662A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415558.1,