Links to SNPedia
Title |
Summary |
rs5742905 T/T
|
Common in clinvar |
rs5742905 C/C
|
Possible miscall in ancestry v2.0 datasets; otherwise, mild clinical homocystinuria which is responsive to vitamin b6
|
rs5742905 C/T
|
Possible miscall in ancestry v2.0 datasets; otherwise, carrier for mild clinical homocystinuria which is responsive to vitamin b
|
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
There are no PLoS-results yet. Please come back again later.
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
CBS |
High clinical importance, Likely pathogenic |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment. |
recessive |
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: