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: rs1238066548
rs1238066548 		1.000 0.040 19 38595699 missense variant G/A;T snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		Neoplasms 0.700 0
dbSNP: rs1555806119
rs1555806119 		1.000 0.080 19 38587350 frameshift variant AA/- del
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0