rs1057519279, KMT2B

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DYSTONIA 28, CHILDHOOD-ONSET
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
17 1.000 19 35720980 stop gained C/T snv 0.700 1.000 1 2016 2016
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016