GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BLM G34Vinsufficiently evaluated noneunknown

(6 web hits)

BLM R85Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
BLM E140Ginsufficiently evaluated not reviewed, f=0.011unknown var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
BLM T298Minsufficiently evaluated none, f=0.001unknown

(4 web hits)

CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
BLM D329Ginsufficiently evaluated not reviewedunknown
BLM N534Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
BLM Y584Xinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
BLM R591Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
BLM R643Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19649-1100-36-ASM
BLM P707Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_D02 from PGP sample 27316983
BLM P868Linsufficiently evaluated none, f=0.068unknown

(12 web hits)

CGI sample GS00253-DNA_G01_200_37
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18517-1100-36-ASM
BLM A1043Dinsufficiently evaluated none, f=0.004unknown var-GS19240-1100-36-ASM
BLM E1143Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
BLM A1203Vinsufficiently evaluated not reviewedunknown
BLM V1321Iinsufficiently evaluated none, f=0.077unknown var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
BLMH Q243Einsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
BLMH E381Kinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS000005532
BLMH I443Vinsufficiently evaluated pathogenic, f=0.285unknown

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
BLMH A1450Ginsufficiently evaluated pharmacogeneticunknown
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Total results: 19

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