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.
Dysuria
CUI: C0013428
Disease: Dysuria
3 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 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
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 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
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 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
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 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
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 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
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 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
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