ADSS1, adenylosuccinate synthase 1, 122622

N. diseases: 49; N. variants: 3
Disease: MYOPATHY, DISTAL, 5 ×
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: rs140614802
rs140614802 		0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.800 0
dbSNP: rs559454746
rs559454746 		1.000 14 104741973 frameshift variant A/- del 2.8E-05
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 0