RS121918327 BBS12

Health Risk Chr 4:122742954 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
Inability to walk
Abnormal cardiovascular system morphology
Polydactyly
postaxial
type A1
Visual impairment
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
Inability to walk
Abnormal cardiovascular system morphology
Polydactyly
postaxial
Population Frequencies
gnomAD ALL
0%
Other Variants in BBS12
rs587777801 rs587777802 rs121918328 rs587777803 rs151344630 rs138036823 rs144855583 rs116805550 rs115635198 rs747904021
Ask Dr. Hemsworth about this variant