SHPK, sedoheptulokinase, 23729

N. diseases: 27; N. variants: 2
Disease: Deficiency of sedoheptulokinase ×
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: rs144071313
rs144071313 		1.000 17 3624187 stop gained G/A;C snv 5.5E-04; 4.0E-06
CUI: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase 		0.700 0
dbSNP: rs748544120
rs748544120 		1.000 17 3630304 stop gained C/A;G;T snv 1.2E-05; 4.0E-06
CUI: C1291373
Disease: Deficiency of sedoheptulokinase
Deficiency of sedoheptulokinase 		0.700 0