RS3745274 CYP2B6

Drug Response Chr 19:41006935 snv splice acceptor variant
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What This Variant Does
"aka c.516G&gt
Associated Conditions
Efavirenz response
efavirenz response - Metabolism/PK
efavirenz response - Toxicity
nevirapine response - Metabolism/PK
CYP2B6-related disorder
Familial cancer of breast
Efavirenz response
efavirenz response - Metabolism/PK
efavirenz response - Toxicity
nevirapine response - Metabolism/PK
CYP2B6-related disorder
Familial cancer of breast
ClinVar Assertions (1)
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His)
· 6 submitters
Population Frequencies
gnomAD ALL
25.4%
1kG AFR
37.4%
1kG ALL
31.6%
1kG AMR
37.3%
1kG EAS
21.5%
1kG EUR
76.4%
1kG SAS
38.1%
Other Variants in CYP2B6
rs186335453 rs139801276 rs373489637 rs371424910 rs281864907 rs34097093 rs36079186 rs28399499
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