rs1352010373, 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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Cerebral Hemorrhage
CUI: C2937358
Disease: Cerebral Hemorrhage
78 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0