rs142239530, STIM1

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short philtrum
CUI: C1861324
Disease: Short philtrum
0.700 GeneticVariation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
Wide nasal base
CUI: C1849667
Disease: Wide nasal base
0.700 GeneticVariation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 GeneticVariation CLINVAR
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 GeneticVariation CLINVAR
Anisocytosis
CUI: C0221278
Disease: Anisocytosis
0.700 GeneticVariation CLINVAR
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
0.700 GeneticVariation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 GeneticVariation CLINVAR
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
0.700 GeneticVariation CLINVAR
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 GeneticVariation CLINVAR
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
0.700 GeneticVariation CLINVAR
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 GeneticVariation CLINVAR
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 GeneticVariation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 GeneticVariation CLINVAR
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
0.700 GeneticVariation CLINVAR
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
0.700 GeneticVariation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 GeneticVariation CLINVAR
Stormorken Syndrome
CUI: C1861451
Disease: Stormorken Syndrome
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Curved 4th toe phalanx
CUI: C4021280
Disease: Curved 4th toe phalanx
0.700 GeneticVariation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR