RS115369710 PCNT

Health Risk Chr 21:46363899 snv missense variant
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Associated Conditions
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism type II
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
98.3%
1kG ALL
99.5%
1kG AMR
99.7%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in PCNT
rs119479061 rs397509366 rs397514033 rs119479062 rs1601795448 rs119479063 rs119479064 rs1569239749 rs2148093442 rs387906928
Ask Dr. Hemsworth about this variant