rs41303402
This is a variant in the SMO gene that changes a valine to an isoleucine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish populationAssociationN=284Aleksandra Lesiak et al.(2016)· Archives of Dermatological Research
Case-control study of 142 Polish BCC patients and 142 controls examining 22 polymorphisms in sonic hedgehog pathway genes (SHH, GLI1-4, SMO, PTCH1-2). The SHH rs104894040 T/C polymorphism CC genotype showed the strongest association with basal cell carcinoma risk (OR=87.9, p<0.0001). SHH rs104894049 A/T TT genotype (OR=10.59) and SMO rs41303402 G/A GG genotype also significantly increased BCC risk, while other investigated polymorphisms showed no significant differences between cases and controls.
About SMO
The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
View all SMO variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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