MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Poor school performance ×
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: rs1057518781
rs1057518781 		0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518782
rs1057518782 		0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0