RS111315726 MKS1

Health Risk Chr 17:58206518 snv missense variant
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Associated Conditions
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome
type 1
Bardet-Biedl syndrome 13
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome
type 1
Bardet-Biedl syndrome 13
Population Frequencies
gnomAD ALL
0%
1kG AFR
1.6%
1kG ALL
99.6%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in MKS1
rs730880323 rs386834052 rs199874059 rs386834048 rs137853105 rs587777804 rs386834041 rs386834042 rs386834044 rs386834045
Ask Dr. Hemsworth about this variant