RS113624356 BBS1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy
Retinal disorder
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
Population Frequencies
gnomAD ALL
99.7%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
0.4%
1kG EAS
100%
1kG EUR
99.8%
1kG SAS
100%
Other Variants in BBS1