RS5216 KCNJ11

Health Risk Chr 11:17387290 snv synonymous variant
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Associated Conditions
Maturity-onset diabetes of the young type 13
Diabetes mellitus
transient neonatal
3
Hyperinsulinemic hypoglycemia
familial
2
Permanent neonatal diabetes mellitus
permanent neonatal 2
Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 13
Diabetes mellitus
transient neonatal
3
Hyperinsulinemic hypoglycemia
Population Frequencies
gnomAD ALL
97.9%
1kG AFR
0.2%
1kG ALL
1.3%
1kG AMR
1.9%
1kG EAS
100%
1kG EUR
2.6%
1kG SAS
97.3%
Other Variants in KCNJ11
rs193929353 rs80356618 rs28936678 rs80356624 rs80356616 rs80356625 rs80356611 rs80356621 rs2496409024 rs104894236
Ask Dr. Hemsworth about this variant