RS139010200 TTC7A

Health Risk Chr 2:47046328 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1
TTC7A-related disorder
Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1
TTC7A-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
99.7%
1kG SAS
100%
Other Variants in TTC7A
rs587776971 rs587776972 rs587777547 rs587777548 rs587777549 rs587777550 rs587777551 rs149602485 rs886037746 rs886037747
Ask Dr. Hemsworth about this variant