rs1057518781, MCOLN1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Atrophy/Degeneration affecting the brainstem
2 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Corneal Opacity
CUI: C0010038
Disease: Corneal Opacity
5 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Delayed myelination
CUI: C1277241
Disease: Delayed myelination
6 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Delayed speech and language development
192 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0