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: rs483352867
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.860 1.000 6 2014 2019
dbSNP: rs527236030
rs527236030
STIM1
0.851 0.400 11 4023945 missense variant A/T snv
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 1.000 2 2014 2015
dbSNP: rs397514671
rs397514671
STIM1
0.925 0.120 11 4083309 missense variant C/T snv 4.0E-06
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		0.800 1.000 0 2009 2012
dbSNP: rs397514675
rs397514675
STIM1
1.000 0.080 11 3967663 missense variant A/G snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs397514676
rs397514676
STIM1
1.000 0.080 11 4023927 missense variant C/A;T snv 4.0E-06
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs397514677
rs397514677
STIM1
0.851 0.400 11 4023928 missense variant A/G snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs397515436
rs397515436
STIM1
1.000 0.080 11 3967628 missense variant C/A snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs527236030
rs527236030
STIM1
0.851 0.400 11 4023945 missense variant A/T snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs748277951
rs748277951
STIM1
1.000 0.080 11 3967651 missense variant A/C;G snv 2.0E-05
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		0.800 1.000 0 2013 2015
dbSNP: rs483352867
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.720 1.000 5 2014 2019
dbSNP: rs397514677
rs397514677
STIM1
0.851 0.400 11 4023928 missense variant A/G snv
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.710 1.000 0 2019 2019
dbSNP: rs483352867
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		0.700 1.000 6 2014 2017
dbSNP: rs527236030
rs527236030
STIM1
0.851 0.400 11 4023945 missense variant A/T snv
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		0.700 1.000 2 2014 2015
dbSNP: rs527236030
rs527236030
STIM1
0.851 0.400 11 4023945 missense variant A/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.700 1.000 2 2014 2015
dbSNP: rs1057519505
rs1057519505
STIM1
1.000 0.120 11 4083300 missense variant C/T snv
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		0.700 0
dbSNP: rs1057519506
rs1057519506
STIM1
1.000 0.120 11 3967633 missense variant T/C snv
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		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: 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: 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: 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: 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: 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: 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: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		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