RS118204053 CC2D2A

Health Risk Chr 4:15559182 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Joubert syndrome 9
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Meckel syndrome
type 6
Retinitis pigmentosa 93
Joubert syndrome 9
Inborn genetic diseases
Joubert syndrome
Meckel-Gruber syndrome
CC2D2A-related disorder
COACH syndrome 2
Population Frequencies
gnomAD ALL
0%
Other Variants in CC2D2A
rs2109050324 rs116358011 rs118204051 rs118204052 rs386833750 rs267606709 rs387907058 rs386833745 rs386833746 rs386833747
Ask Dr. Hemsworth about this variant