EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
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: rs13280053
rs13280053
8 117889689 intron variant T/G snv 0.50
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs17430287
rs17430287
8 117844068 intron variant A/G snv 0.16
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs4298514
rs4298514
8 117920648 intron variant C/T snv 0.65
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018