Table 2 Variants of definite and possible importance found in suspected FH patient cohort of Latvian population
CAT | Gene | rs code | AAF | FRQ | Variants | Description with references |
|---|---|---|---|---|---|---|
1 | APOB | rs5742904 | T = 0,016 | T = 0,001 | p.(Arg3527Gln) | Hypercholesterolemia [18, 40, 41, 44, 49, 50, 52], associated with increased LDL-C [51] |
1 | LDLR | rs147509697 | A = 0,011 | A = 0,001 | p.(Gly20Arg) | Hypercholesterolaemia, possibly damaging [38], found in FH patient [39–43], used in LIPOCHIP – FH diagnosis panel [44] |
1 | LDLR | T = 0,005 | p.(Arg350*) | |||
1 | LDLR | rs17248882 | A = 0,005 | A = 0.002 | c.1706-10G > A | Hypercholesterolaemia? [45, 47], 3’splice acceptor mutation in intron 11 [46, 48], computed estimation – outside splicing regulatory regions [38], found in seven FH patients [40, 49] |
2 | APOB | rs201990496 | C = 0,005 | A = 0.000 | p.(Ser3915Cys) | No information found |
2 | APOB | rs151009667 | T = 0,011 | T = 0.002 | p.(Arg1689His) | Hypertriglyceridaemia?[53] |
2 | APOB | G = 0,005 | p.(Tyr144His) | No information found | ||
3 | APOB | rs72654423 | C = 0,005 | C = 0.003 | p.(Ile4314Val) | Found in individuals with high TG levels [63] |
3 | APOB | rs61743502 | G = 0,005 | G = 0.003 | p.(Val4265Ala) | No information found |
3 | APOB | rs1801696 | T = 0,016 | T = 0.002 | p.(Glu2566Lys) | Hypertriglyceridaemia?[53] |
3 | APOB | rs72653092 | T = 0,011 | T = 0.001 | p.(Ser2429Thr) | Hypertriglyceridaemia?[53] |
3 | APOB | T = 0,005 | p.(Val2095Glu) | No information found | ||
3 | APOB | A = 0,005 | p.(Met755Leu) | No information found | ||
3 | APOB | rs146152405 | A = 0,005 | T = 0.001 | p.(Arg214Leu) | No information found |
3 | LDLR | G = 0,005 | c.2141-9 T > G | No information found |