RS139366969 PIGT

Health Risk Chr 20:45421415 snv missense variant
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Associated Conditions
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Inborn genetic diseases
PIGT-related disorder
Malignant tumor of urinary bladder
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Inborn genetic diseases
PIGT-related disorder
Malignant tumor of urinary bladder
Population Frequencies
gnomAD ALL
0.2%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
0.3%
1kG EAS
100%
1kG EUR
99.8%
1kG SAS
100%
Other Variants in PIGT
rs587777027 rs587777028 rs527236031 rs527236032 rs756632799 rs201317502 rs149740779 rs574183358 rs771691280 rs771157170
Ask Dr. Hemsworth about this variant