rs1163944538, TMEM94

N. diseases: 73
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.
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Abnormal pigmentation
CUI: C1260926
Disease: Abnormal pigmentation
5 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Abnormality of cardiovascular system morphology
13 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Abnormality of the hip bone
CUI: C4021735
Disease: Abnormality of the hip bone
3 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Abnormality of the scrotum
CUI: C4025895
Disease: Abnormality of the scrotum
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Abnormality of tibia morphology
CUI: C4025663
Disease: Abnormality of tibia morphology
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Arnold Chiari Malformation
CUI: C0003803
Disease: Arnold Chiari Malformation
4 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Back Pain
CUI: C0004604
Disease: Back Pain
10 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Cartilaginous exostosis
CUI: C0029423
Disease: Cartilaginous exostosis
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Cerebral Hemorrhage
CUI: C2937358
Disease: Cerebral Hemorrhage
78 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Coarse hair
CUI: C0277959
Disease: Coarse hair
4 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Diminished movement
CUI: C4025710
Disease: Diminished movement
4 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Dyspnea on exertion
CUI: C0231807
Disease: Dyspnea on exertion
3 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0