SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE ×
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: rs1008642
rs1008642 		0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.700 0
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.700 0