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.
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
6 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
Lower limb amyotrophy
CUI: C4024921
Disease: Lower limb amyotrophy
4 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0