|
rs1016140
|
CD58
|
Intronic CD58 variant with a dual role — the G allele increases T-cell activi...
|
Neurology & Cognition
|
|
Moderate
|
|
rs10984447
|
DBC1
DBC1 multiple sclerosis susceptibility variant
|
Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s...
|
TNF, NF-kB & Inflammatory Cytokines
|
|
Moderate
|
|
rs10456100
|
KCNK5
|
Intronic variant near KCNK5 that reduces TASK2 potassium channel expression a...
|
Neurology & Cognition
|
|
Strong
|
|
rs142885915
|
NPSR1
NPSR1 Endometriosis Risk Variant
|
An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ...
|
Endometriosis & Uterine Health
|
|
Moderate
|
|
rs12044852
|
CD58
|
Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...
|
Neurology & Cognition
|
|
Strong
|
|
rs12053868
|
IL1RAP
IL1RAP amyloid risk variant
|
Intronic variant in IL1RAP that impairs microglial activation, accelerating b...
|
Neurology & Cognition
|
|
Moderate
|
|
rs12459419
|
CD33
CD33 exon 2 splicing variant
|
Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ...
|
Neurology & Cognition
|
|
Strong
|
|
rs17493811
|
AGER
|
Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia...
|
Hormones & Sleep
|
|
Moderate
|
|
rs12693542
|
SLC40A1
|
Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ...
|
Neurology & Cognition
|
|
Strong
|
|
rs199347
|
GPNMB
|
Intronic GPNMB variant that acts as a brain eQTL; the A allele increases GPNM...
|
Longevity & Aging
|
|
Strong
|
|
rs1335532
|
CD58
|
Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...
|
Neurology & Cognition
|
|
Strong
|
|
rs2069837
|
IL6
|
Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...
|
Longevity & Aging
|
|
Moderate
|
|
rs1414273
|
CD58
|
Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...
|
Neurology & Cognition
|
|
Strong
|
|
rs1532278
|
CLU
CLU Alzheimer's risk variant
|
Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls...
|
Neurology & Cognition
|
|
Strong
|
|
rs1718119
|
P2RX7
Ala348Thr
|
Gain-of-function variant in the P2X7 receptor that increases ATP-gated pore f...
|
Neurology & Cognition
|
|
Moderate
|
|
rs2070600
|
AGER
Gly82Ser
|
Missense variant in the AGER pattern-recognition receptor that reduces solubl...
|
Hormones & Sleep
|
|
Strong
|
|
rs1800693
|
TNFRSF1A
|
Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...
|
Neurology & Cognition
|
|
Strong
|
|
rs2078371
|
TSPAN2
|
Regulatory variant in the TSPAN2/NGF locus on chromosome 1p13; the C allele i...
|
Neurology & Cognition
|
|
Strong
|
|
rs208294
|
P2RX7
His155Tyr
|
Gain-of-function missense variant in the P2X7 ATP-gated receptor that increas...
|
Neurology & Cognition
|
|
Moderate
|
|
rs28362944
|
SERPING1
|
5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2230912
|
P2RX7
Gln460Arg
|
Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ...
|
Neurology & Cognition
|
|
Moderate
|
|
rs2300747
|
CD58
|
Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...
|
Neurology & Cognition
|
|
Strong
|
|
rs3816183
|
HAAO
Ile37Val
|
Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3129934
|
HLA-DRB5
DR15 haplotype tag
|
Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n...
|
Neurology & Cognition
|
|
Strong
|
|
rs3135388
|
HLA-DRA
Tag for DRB1*15:01
|
Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...
|
Neurology & Cognition
|
|
Established
|
|
rs4926
|
SERPING1
Val480Met
|
Missense variant in C1-inhibitor gene associated with insomnia risk through n...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3751143
|
P2RX7
Glu496Ala
|
Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...
|
Neurology & Cognition
|
|
Strong
|
|
rs3865444
|
CD33
CD33 microglial Alzheimer's variant
|
Promoter-region variant that modulates CD33 expression on microglia — the pro...
|
Neurology & Cognition
|
|
Strong
|
|
rs4149584
|
TNFRSF1A
R92Q
|
Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...
|
Neurology & Cognition
|
|
Strong
|
|
rs6656401
|
CR1
CR1 complement receptor Alzheimer's variant
|
Intronic variant in the complement receptor 1 gene; the minor A allele impair...
|
Neurology & Cognition
|
|
Strong
|
|
rs75932628
|
TREM2
R47H
|
Rare missense variant in microglial receptor TREM2 that significantly increas...
|
Neurology & Cognition
|
|
Established
|
|
rs76904798
|
LRRK2
5' Regulatory Variant
|
Common noncoding variant upstream of LRRK2 that increases gene expression in ...
|
Neurology & Cognition
|
|
Strong
|
|
rs78117248
|
ABCA7
ABCA7 AD risk variant
|
Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl...
|
Neurology & Cognition
|
|
Strong
|
|
rs7958311
|
P2RX7
Arg270His
|
P2RX7 variant with a unique dual mechanism — gain-of-function in channel open...
|
Neurology & Cognition
|
|
Moderate
|
|
rs9271366
|
HLA-DQA1
eQTL
|
Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*0...
|
Neurology & Cognition
|
|
Established
|
|
rs9275328
|
HLA-DQB1
DQB1 region
|
Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele,...
|
Neurology & Cognition
|
|
Strong
|