Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C4021280
Disease: Curved 4th toe phalanx
Curved 4th toe phalanx 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0