rs1057519286, MECR

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.
Childhood Onset Dystonias
CUI: C0752202
Disease: Childhood Onset Dystonias
8 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
6 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0