RS116358011 CC2D2A

Health Risk Chr 4:15537073 snv stop gained
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Associated Conditions
Meckel syndrome
type 6
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Meckel syndrome
type 6
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 9
Retinitis pigmentosa 93
COACH syndrome 2
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in CC2D2A
rs2109050324 rs118204051 rs118204052 rs118204053 rs386833750 rs267606709 rs387907058 rs386833745 rs386833746 rs386833747
Ask Dr. Hemsworth about this variant