Variant | Gene | dbSNP | Most severe consequence | Allele frequency in 1000 Genomes |
---|---|---|---|---|
PAH |
rs535715056 | 3_prime_UTR_variant | 0.00019968 | |
PAH |
rs551502562 | 3_prime_UTR_variant | 0.0059904 | |
PAH |
rs185081299 | 3_prime_UTR_variant | 0.0013978 | |
PAH |
rs1801153 | 3_prime_UTR_variant | 0.2925 | |
PAH |
rs375319584 | 3_prime_UTR_variant | 0.0033946 | |
PAH |
rs569495604 | 3_prime_UTR_variant | 0.00019968 | |
PAH |
rs372637021 | 3_prime_UTR_variant | 0.0025959 | |
PAH |
rs794727086 | coding_sequence_variant | - | |
PAH |
rs199475641 | frameshift_variant | - | |
PAH |
rs76542238 | missense_variant | - | |
PAH |
missense_variant | - | ||
PAH |
missense_variant | - | ||
PAH |
missense_variant | - | ||
PAH |
stop_gained | - | ||
PAH |
splice_acceptor_variant | - | ||
PAH |
rs62509020 | intron_variant | - | |
PAH |
rs62508635 | intron_variant | - | |
PAH |
rs62509021 | intron_variant | 0.010583 | |
PAH |
rs62508650 | intron_variant | - | |
PAH |
intron_variant | - | ||
PAH |
rs62508649 | intron_variant | - | |
PAH |
splice_donor_variant | - | ||
PAH |
rs1799970 | splice_donor_variant | - | |
PAH |
splice_donor_variant | - | ||
PAH |
rs5030861 | splice_donor_variant | - | |
PAH |
frameshift_variant | - | ||
PAH |
missense_variant | - | ||
PAH |
rs199475659 | missense_variant | - | |
PAH |
frameshift_variant | - | ||
PAH |
rs199475607 | missense_variant | - | |
PAH |
rs794727047 | missense_variant | - | |
PAH |
rs764974157 | missense_variant | - | |
PAH |
frameshift_variant | - | ||
PAH |
stop_gained | - | ||
PAH |
rs59326968 | synonymous_variant | 0.0465 | |
PAH |
rs199475670 | missense_variant | - | |
PAH |
stop_gained | - | ||
PAH |
frameshift_variant | - | ||
PAH |
rs199475621 | missense_variant | - | |
PAH |
missense_variant | - | ||
PAH |
rs199475696 | missense_variant | - | |
PAH |
rs767075719 | missense_variant | - | |
PAH |
rs752255985 | missense_variant | - | |
PAH |
missense_variant | - | ||
PAH |
missense_variant | - | ||
PAH |
rs62644501 | missense_variant | - | |
PAH |
missense_variant | - | ||
PAH |
missense_variant | - | ||
PAH |
rs62644471 | missense_variant | - | |
PAH |
rs62644471 | missense_variant | - |