SPHK1, sphingosine kinase 1, 8877

N. diseases: 236; N. variants: 2
Disease: Reticulocyte count (procedure) ×
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: rs2247856
rs2247856 		17 76385474 missense variant G/A snv 0.40 0.33
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs549579958
rs549579958 		17 76387027 frameshift variant G/- del 1.8E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016