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.
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
Cartilaginous exostosis
CUI: C0029423
Disease: Cartilaginous exostosis
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Hypoplastic helices
CUI: C1842681
Disease: Hypoplastic helices
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Lymphatic Vessel Tumors
CUI: C0206619
Disease: Lymphatic Vessel Tumors
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Mesenteric Cyst
CUI: C0025467
Disease: Mesenteric Cyst
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Numerous nevi
CUI: C1849677
Disease: Numerous nevi
2 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Tall chin
CUI: C4021875
Disease: Tall chin
2 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
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
Dysuria
CUI: C0013428
Disease: Dysuria
3 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Long neck
CUI: C1839816
Disease: Long neck
3 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
Coarse hair
CUI: C0277959
Disease: Coarse hair
4 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
Urinary Retention
CUI: C0080274
Disease: Urinary Retention
4 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
Sinus Tachycardia
CUI: C0039239
Disease: Sinus Tachycardia
5 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Tachypnea
CUI: C0231835
Disease: Tachypnea
5 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Laryngotracheomalacia
CUI: C0585984
Disease: Laryngotracheomalacia
6 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Large hand
CUI: C0426870
Disease: Large hand
7 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Palpitations
CUI: C0030252
Disease: Palpitations
7 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
9 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
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
10 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0