RS111442398 BBS7

Health Risk Chr 4:121843996 snv missense variant
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Associated Conditions
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
Retinal dystrophy
BBS7-related ciliopathy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
Retinal dystrophy
BBS7-related ciliopathy
Population Frequencies
gnomAD ALL
0.2%
1kG AFR
100%
1kG ALL
0%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in BBS7
rs119466001 rs119466002 rs587777812 rs587777836 rs672601379 rs727503821 rs202102193 rs370716101 rs200770952 rs863224529
Ask Dr. Hemsworth about this variant