rs1569518070, COL6A1

N. diseases: 33
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.
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Restrictive deficit on pulmonary function testing
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
6 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Sandal gap
CUI: C1840069
Disease: Sandal gap
6 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Shield chest
CUI: C1834124
Disease: Shield chest
2 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0