|
rs1042713
|
ADRB2
Arg16Gly
|
Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...
|
Fitness & Body
|
|
Strong
|
|
rs113994167
|
ACADVL
p.Val283Ala (V283A)
|
Most common VLCAD deficiency variant in the US, causing mild late-onset disea...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs1053049
|
PPARD
3'UTR variant
|
3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...
|
Fitness & Body
|
|
Moderate
|
|
rs10852521
|
FTO
|
FTO intron 1 variant associated with BMI and body fat accumulation, with stro...
|
Fitness & Body
|
|
Moderate
|
|
rs119103258
|
PYGM
|
Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs121907892
|
SLC22A12
W258X
|
Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, c...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs147647315
|
SLC22A12
URAT1 R90H
|
Missense variant in URAT1 reducing urate reabsorption in the kidney, causing ...
|
Uric Acid & Kidney Function
|
|
Strong
|
|
rs2911463
|
PIEZO1
|
Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...
|
Arrhythmia & Heart Rhythm
|
|
Strong
|
|
rs17219084
|
FTO
|
FTO intron variant in the extended obesity-associated region, with explorator...
|
Fitness & Body
|
|
Emerging
|
|
rs17602729
|
AMPD1
C34T (Q12X)
|
Enzyme critical for energy production during high-intensity exercise; deficie...
|
Fitness & Body
|
|
Strong
|
|
rs201065226
|
CPT2
p.Arg124Ter (R124X)
|
Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, ...
|
Metabolic Enzymes & Rare Disorders
|
|
Strong
|
|
rs1800764
|
ACE
Promoter T>C
|
Upstream promoter-region ACE variant on a separate LD block from the I/D poly...
|
Fitness & Body
|
|
Moderate
|
|
rs17036314
|
PPARG
|
Intronic PPARG variant — carriers of the C allele have elevated fasting gluco...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1801253
|
ADRB1
Arg389Gly
|
Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...
|
Fitness & Body
|
|
Strong
|
|
rs267606993
|
PYGM
PYGM Met1Val (start-loss)
|
Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs2016520
|
PPARD
+294T>C
|
Regulatory variant that increases PPARD transcription, enhancing fat oxidatio...
|
Fitness & Body
|
|
Moderate
|
|
rs2267668
|
PPARD
Intron variant (5' region)
|
Intronic PPARD variant that impairs aerobic fitness gains and body compositio...
|
Fitness & Body
|
|
Moderate
|
|
rs3736228
|
LRP5
A1330V
|
Wnt signaling co-receptor variant affecting bone mineral density and fracture...
|
Fitness & Body
|
|
Strong
|
|
rs74315294
|
CPT2
p.Ser113Leu (S113L)
|
Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs4253778
|
PPARA
intron 7 G/C
|
Regulates fatty acid oxidation and muscle fiber composition, influencing endu...
|
Fitness & Body
|
|
Moderate
|
|
rs6902123
|
PPARD
|
Intronic PPARD variant that independently impairs hepatic fat mobilization du...
|
Fitness & Body
|
|
Moderate
|
|
rs9939609
|
FTO
Intron 1 T>A
|
The most strongly replicated obesity-associated variant, affecting body weigh...
|
Appetite & Obesity
|
|
Established
|
|
rs356182
|
SNCA
|
Parkinson's disease GWAS risk variant affecting alpha-synuclein expression an...
|
Neurology & Cognition
|
|
Strong
|
|
rs6265
|
BDNF
Val66Met
|
Key neurotrophin variant that controls activity-dependent BDNF release, affec...
|
Neurology & Cognition
|
|
Strong
|
|
rs891512
|
NOS3
|
Intronic NOS3 variant that alters splicing factor binding and is associated w...
|
Methylation & Detox
|
|
Moderate
|