From: Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank
Gene | dbSNP | cDNA change | Amino-acid change | QGP AC | Max AF in public databases | QGP subcluster | Estimated clinical penetrance | ClinVar | ClinVar Phenotype |
---|---|---|---|---|---|---|---|---|---|
ABCG5 | rs199689137 | c.1336Â C>T | p.Arg446* | 27 | 0.0006 | QGP_ADM (1), QGP_GAR(24), QGP_PAR(1), QGP_WEP (1) | . | P | Sitosterolemia 1 |
ABCG8 | rs137852991 | c.1234Â C>T | p.Arg412* | 1 | 6.67E-05 | QGP_ADM | . | P | Sitosterolemia 2 |
ABCG8 | rs137852988 | c.1720G>A | p.Gly574Arg | 6 | 4.49E-05 | QGP_WEP | 100% (1/1)* | P/LP | Sitosterolemia 2 |
APOB | . | c.2817-2Â A>C | . | 2 | 0 | QGP_ADM | . | LP | Hypobetalipoproteinemia |
APOB | . | c.1468Â C>T | p.Arg490Trp | 2 | 1.79E-05 | QGP_ADM (1), QGP_GAR (1) | . | P | Hypobetalipoproteinemia |
LDLR | rs879254809 | c.1154T>G | p.Leu385Arg | 1 | 0 | QGP_AFR | 0% (0/1) | LP | Familial Hypercholesterolemia |
LDLR | rs758194385 | c.1691Â A>G | p.Asn564Ser | 1 | 1.74E-04 | QGP_GAR | 100% (1/1) | LP | Familial Hypercholesterolemia |
LDLR | rs771019366 | c.269Â A>G | p.Asp90Gly | 3 | 8.24E-06 | QGP_WEP(2), QGP_ADM(1) | 67% (2/3) | P/LP | Familial Hypercholesterolemia |
LDLR | rs1064793799 | c.313+3Â A>C | . | 6 | 0 | QGP_PAR(6) | 83% (5/6) | P | Familial Hypercholesterolemia |
LIPA | . | c.863 C>T | p.Thr288Ile | 1 | 0 | QGP_SAS | . | LP | Lysosomal acid lipase deficiency |