BLM G34V | insufficiently evaluated none | unknown |
(6 web hits) | |
BLM R85T | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19017-1100-36-ASM |
BLM E140G | insufficiently evaluated not reviewed, f=0.011 | unknown |
| var-GS19017-1100-36-ASM |
BLM T298M | insufficiently evaluated none, f=0.001 | unknown |
(4 web hits) | CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
BLM D329G | insufficiently evaluated not reviewed | unknown |
| |
BLM N534S | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19026-1100-36-ASM |
BLM Y584X | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
BLM R591Q | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18502-1100-36-ASM |
BLM R643H | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19649-1100-36-ASM |
BLM P707S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
BLM P868L | insufficiently evaluated none, f=0.068 | unknown |
(12 web hits) | CGI sample GS00253-DNA_G01_200_37 |
BLM A1043D | insufficiently evaluated none, f=0.004 | unknown |
| var-GS19240-1100-36-ASM |
BLM E1143K | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
BLM A1203V | insufficiently evaluated not reviewed | unknown |
| |
BLM V1321I | insufficiently evaluated none, f=0.077 | unknown |
| var-GS19703-1100-36-ASM |
BLMH Q243E | insufficiently evaluated not reviewed, f=0.008 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
BLMH E381K | insufficiently evaluated not reviewed, f=0.002 | unknown |
| CGI sample GS000005532 |
BLMH I443V | insufficiently evaluated pathogenic, f=0.285 | unknown | The exact function of BLMH, a cysteine protease of the papain superfamily, is unknown, but has been associated with increased risk of Alzheimer’s Disease (AD) in non-APOE4 individuals through a homozygous A->G nucleotide exchange. This variant increases the release of the proteolytic fragment, β-amyloid, in amyloid precursor proteins, which is a key event in the pathogenesis of AD. Case control studies studying the 1443V variant reported median prevalence for the A/A + A/G genotypes was 0.86. Increased AD risk with common G/G genotype was seen through higher frequency of the G/G phenotype among AD patients compared with control subjects. Increased risk for AD in individuals homozygous for the G allele confined it to non-APOE4 individuals. Although studies have found contradictory results, the potential important of this variant places it as a novel target for HD therapeutics.
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
BLMH A1450G | insufficiently evaluated pharmacogenetic | unknown |
| |