RS7918487 PTF1A

Health Risk Chr 10:23193705 snv missense variant
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Associated Conditions
Permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pancreatic agenesis 2
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pancreatic agenesis 2
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Population Frequencies
gnomAD ALL
0%
1kG AFR
40.2%
1kG ALL
62.4%
1kG AMR
63.3%
1kG EAS
86.9%
1kG EUR
52.6%
1kG SAS
44.4%
Other Variants in PTF1A
rs104894186 rs886039746 rs2492671663 rs535090775 rs117678424 rs886046910 rs565666569 rs140097468 rs1588563037 rs539214102
Ask Dr. Hemsworth about this variant