RS116445698 TMEM67

Health Risk Chr 8:93799677 snv missense variant
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Associated Conditions
Joubert syndrome 6
Meckel syndrome
type 3
Nephronophthisis 11
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
Meckel syndrome
type 3
Nephronophthisis 11
Joubert syndrome
Meckel-Gruber syndrome
Population Frequencies
gnomAD ALL
99.6%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
0.3%
1kG SAS
100%
Other Variants in TMEM67
rs386834200 rs386834204 rs386834207 rs1554557920 rs137853106 rs386834187 rs137853107 rs756686115 rs199821258 rs267607114
Ask Dr. Hemsworth about this variant