RS115259839 PNKP

Health Risk Chr 19:49864057 snv missense variant
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Associated Conditions
Developmental and epileptic encephalopathy
12
Microcephaly
seizures
and developmental delay
Inborn genetic diseases
PNKP-related disorder
Uterine corpus endometrial carcinoma
Developmental and epileptic encephalopathy
12
Microcephaly
seizures
and developmental delay
Inborn genetic diseases
PNKP-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.5%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant