These are the CBS SNPs from the 23andMe test, which have research showing if a genotype or allele is risky. The primary risk factor associated with CBS mutations is elevated homocysteine due to downregulation of the CBS gene. Two of the SNP variations are considered "protective" in the research, meaning they are upregulated and help in disposing of homocysteine a bit faster than normal.
Thus the the CBS C699T SNP which Yasko reports as AA being the risky version, is reported here with GG being the riskier version. No studies showed any increased risk due to the A allele, and two studies showed less risk for two separate disease. Similarly, CBS A360A and CBS N212N have no risk associated with any variation in any available research, hence are not included in the list.
Missense mutations are underlined, bolded, and orange. Even the very rare and serious CBS mutations are usually treatable with vitamin B6, in the case studies discussing them (they rarely have bigger studies because the mutations are too rare). Hence it's likely that B6 is helpful in the milder mutations as well. It's possible that even one mutation in the missense mutations is relevant to CBS gene function, albeit to a milder extent.
rsID.........NAME....RISK...ETC
rs121964968..L539S...GG....i5003392
rs6586282....G134A...CC...T is protective
rs28934891...D444N...TT
rs28934892...P422L...A
rs121964967..K384E...CC...i5003393
rs121964972..T353M...A....i5003389
rs4920037....C530T...A
rs5742905....I278T...G
rs121964969..R266K...T....i5900470
rs234706.....C699T...GG...A is protective
rs121964970..V168M...T....i5003391
rs121964963..P145L...A....i5003397
rs121964966..E144K...T....i5003394
rs121964964..A114V...A....i5003396
rs234709.....G477A...T
rs234715.....C224A...T
Thus the the CBS C699T SNP which Yasko reports as AA being the risky version, is reported here with GG being the riskier version. No studies showed any increased risk due to the A allele, and two studies showed less risk for two separate disease. Similarly, CBS A360A and CBS N212N have no risk associated with any variation in any available research, hence are not included in the list.
Missense mutations are underlined, bolded, and orange. Even the very rare and serious CBS mutations are usually treatable with vitamin B6, in the case studies discussing them (they rarely have bigger studies because the mutations are too rare). Hence it's likely that B6 is helpful in the milder mutations as well. It's possible that even one mutation in the missense mutations is relevant to CBS gene function, albeit to a milder extent.
rsID.........NAME....RISK...ETC
rs121964968..L539S...GG....i5003392
rs6586282....G134A...CC...T is protective
rs28934891...D444N...TT
rs28934892...P422L...A
rs121964967..K384E...CC...i5003393
rs121964972..T353M...A....i5003389
rs4920037....C530T...A
rs5742905....I278T...G
rs121964969..R266K...T....i5900470
rs234706.....C699T...GG...A is protective
rs121964970..V168M...T....i5003391
rs121964963..P145L...A....i5003397
rs121964966..E144K...T....i5003394
rs121964964..A114V...A....i5003396
rs234709.....G477A...T
rs234715.....C224A...T