rs142239530, STIM1

N. diseases: 24
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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Anisocytosis
CUI: C0221278
Disease: Anisocytosis
1 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Creatine phosphokinase serum increased
43 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Curved 4th toe phalanx
CUI: C4021280
Disease: Curved 4th toe phalanx
1 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Stormorken Syndrome
CUI: C1861451
Disease: Stormorken Syndrome
6 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
Wide nasal base
CUI: C1849667
Disease: Wide nasal base
3 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0