RS139287033 ITGB4

Health Risk Chr 17:75728408 snv missense variant
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Associated Conditions
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa
junctional 5A
intermediate
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa
junctional 5A
intermediate
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.5%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in ITGB4
rs794726676 rs121912461 rs121912462 rs80338755 rs121912463 rs147222357 rs121912464 rs121912465 rs1434530468 rs121912466
Ask Dr. Hemsworth about this variant