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rs1057519282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519282(-;C)
Make rs1057519282(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35719507
GeneKMT2B
is asnp
is mentioned by
dbSNPrs1057519282
dbSNP (classic)rs1057519282
ClinGenrs1057519282
ebirs1057519282
HLIrs1057519282
Exacrs1057519282
Gnomadrs1057519282
Varsomers1057519282
LitVarrs1057519282
Maprs1057519282
PheGenIrs1057519282
Biobankrs1057519282
1000 genomesrs1057519282
hgdprs1057519282
ensemblrs1057519282
geneviewrs1057519282
scholarrs1057519282
googlers1057519282
pharmgkbrs1057519282
gwascentralrs1057519282
openSNPrs1057519282
23andMers1057519282
23andMe allrs1057519282
SNPshotrs1057519282
SNPdbers1057519282
MSV3drs1057519282
GWAS Ctlgrs1057519282
Max Magnitude0
ClinVar
Risk rs1057519282(C;C)
Alt rs1057519282(C;C)
Reference Rs1057519282(-;-)
Significance Pathogenic
Disease Dystonia 28
Variation info
Gene KMT2B
CLNDBN Dystonia 28, childhood-onset
Reversed 0
HGVS NC_000019.9:g.36210409dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415532.1,