RS140080199 STIM1

Health Risk Chr 11:4091667 snv missense variant
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Associated Conditions
Myopathy with tubular aggregates
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy with tubular aggregates
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
0.3%
Other Variants in STIM1
rs397515357 rs397515390 rs397514671 rs397514675 rs397514676 rs397514677 rs397515436 rs483352867 rs527236030 rs748277951
Ask Dr. Hemsworth about this variant