rs483352867, STIM1

N. diseases: 8
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.
Stormorken Syndrome
CUI: C1861451
Disease: Stormorken Syndrome
6 0.827 0.400 11 4074620 missense variant C/T snv 0.860 1.000 9 2014 2019
Tubular Aggregate Myopathy
CUI: C0410207
Disease: Tubular Aggregate Myopathy
5 0.827 0.400 11 4074620 missense variant C/T snv 0.720 1.000 6 2014 2019
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
9 0.827 0.400 11 4074620 missense variant C/T snv 0.700 1.000 6 2014 2017
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
Microcoria, congenital
CUI: C1303009
Disease: Microcoria, congenital
2 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
Muscle degeneration
CUI: C0234958
Disease: Muscle degeneration
3 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2018 2018
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014