Disease: Distal amyotrophy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518588
rs1057518588 		0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.700 0
dbSNP: rs1160978570
rs1160978570 		0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.700 0
dbSNP: rs879253887
rs879253887 		0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.700 0