rs730882236, COG6

N. diseases: 3
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.
Hypohidrosis
CUI: C0020620
Disease: Hypohidrosis
1 0.925 0.280 13 39699477 intron variant A/G snv 0.700 0
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
CUI: C3809160
Disease: Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
2 0.925 0.280 13 39699477 intron variant A/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.280 13 39699477 intron variant A/G snv 0.700 0