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Genes and mutations associated with neurodegenerative diseases

If you tested your DNA with a personal genomics service like 23andMe, DeCODEme, FTDNA's Family Finder or another testing company, you can learn more about your risk factors for hundreds of diseases. Many of these SNP's are tested but not (yet) part of the report provided by personal genomics companies. This is free extra information.

We recommend that you install the SNPTips add-on for Mozilla Firefox to browse these pages. It allows you to upload your DNA results in the browser and show instantly which allele variant you have for each of the SNP listed below.

What can DNA tell you about yourself ?

List of neurodegenerative diseases with associated genes and SNP's

Risk alleles : Substantially lower risk (over 3x less), moderately lower risk (up to 3x less), normal, slightly higher risk (up to 3x more), greatly increased risk (over 3x more). Normal alleles marked with a * mean that the person is a carrier of the disease. Depending on the testing company, sometimes A is reported as T, and G is reported as C, or vice-versa.

Testing companies :
A = 23andMe
(all versions) ; A2* = 23andMe (v2 only) ; A2 = 23andMe (v2 & v3) ; A3 = 23andMe (v3 only)
B = DeCODEme
Bold letters indicate that the SNP is part of the official report, and is therefore likely to be more reliable. Only SNP's in the official report are listed for deCODEme.

Description Chromosome Gene SNP Risk alleles Tested by*
Alzheimer's Disease 2 EIF2AK2 rs2254958 CC, CT, TT A
3 MME rs1836915 A3
6 TNF rs1799724 CC, CT, TT A2*
9 DAPK1 rs4878104 A
rs4877365 A
9 GOLM1 rs10868366 GG, GT, TT A3
rs7019241 CC, CT, TT A3
9 intergenic rs9886784 AA, AC, CC A3
10 CALHM1 rs2986017 CC, CT, TT A3
10 PLAU rs2227564 A, B
rs2227562 A, B
11 GAB2 rs2373115 GG, GT, TT A
11 BDNF rs6265 AA, AG, GG A
rs11030104 A
rs2049045 A
11 SORL1 rs2070045 GG, GT, TT A
rs661057 CC, CT, TT A
rs668387 CC, CT, TT A
rs689021 AA, AG, GG A
rs641120 AA, AG, GG A
rs12285364 CC, CT, TT A
12 AM rs669 AA, AG, GG A
12 OLR1 rs1050283 CC, CT, TT A3
15 intergenic rs10519262 AA, AG, GG A3
17 MPO rs2333227 CC, CT, TT A3
rs12316150 A3
19 APOE rs429358 CC, CT, TT
rs7412 A, B
19 APOC1 rs4420638 AA, AG, GG B
X PCDH11X rs5984894 AA, AG, GG A
Alzheimer's Disease (early onset) 14 PSEN1
1 PSEN2
9 ABCA2 rs908832 AA, AG, GG A
21 APP
Amyotrophic Lateral Sclerosis (ALS) 1 FLJ10986 rs6700125 CC, CT, TT A
rs6690993 AA, AG, GG A
rs10493256 A3
rs6587852 A
rs1470407 A3
rs333662 A3
2 intergenic rs12473579 A
rs17027230 A
2 IL18RAP rs3771150 A
7 LOC653748 rs10260404 CC, CT, TT A
7 DPP6 rs10239794 CC, CT, TT A
7 PON2 rs12704795 A
7 MAGI2 rs757863 A
12 intergenic rs905080 A
12 intergenic rs1027615 A
15 LIPC rs3825776 TT, CT, CC A
17 GRN rs9897526 A3
rs34424835 A3
rs850713
18 LOXHD1 rs988213 A
20 intergenic rs13036957 A
21 intergenic rs2836061 A
Creutzfeldt-Jakob Disease 8 intergenic rs1460163 AA, AG, GG A
11 CTSD rs17571 AA, AG, GG A
20 PRNP rs1799990 AA, AG, GG A
Parkinson's Disease 1 USP24 rs287235 CC, CG, GG A
1 GBA i4000415 CC, CT, TT A
2 USP40 rs838552 A
3 MCCC1 rs10513789 GG, GT, TT A
4 FAM47E rs6812193 CC, CT, TT A
4 ADH1C rs283413 GG, GT, TT A
4 SNCA rs356219 CC, CT, TT A
12 LRRK2 rs34637584 AA, AG, GG A
rs34778348 AA, AG, GG A
17 MAPT rs393152 AA, AG, GG A
Primary progressive aphasia 22 PRNP rs1799990 AA, AG, GG A
Progressive Supranuclear Palsy 11 NR1H3 rs7120118 CC, CT, TT A


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