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rs1017861
|
CHD7
CHD7 AIS susceptibility locus
|
Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel...
|
Innate Immunity & Infection Defense
|
|
Moderate
|
|
rs10738445
|
BNC2
BNC2 AIS susceptibility variant
|
Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2...
|
Innate Immunity & Infection Defense
|
|
Strong
|
|
rs118204437
|
GALNS
Arg386Cys
|
Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...
|
Metabolic Enzymes & Rare Disorders
|
|
Established
|
|
rs12883343
|
NFKBIA
NFKBIA/IkB-alpha variant
|
Regulatory variant near NFKBIA that specifically elevates risk for psoriatic ...
|
Psoriasis & Spondyloarthropathy
|
|
Moderate
|
|
rs11842874
|
MCF2L
|
Intronic variant in MCF2L that acts as a synovial eQTL — A allele carriers ha...
|
Fitness & Body
|
|
Strong
|
|
rs12946942
|
SOX9
|
Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24...
|
Innate Immunity & Infection Defense
|
|
Strong
|
|
rs143383
|
GDF5
C/T
|
Regulatory variant in GDF5 affecting cartilage development and osteoarthritis...
|
Fitness & Body
|
|
Established
|
|
rs3738919
|
ITGAV
ITGAV integrin alpha-V variant
|
Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in...
|
B-Cell Immunity & Antibody-Mediated Disease
|
|
Emerging
|
|
rs1800012
|
COL1A1
Sp1 Binding Site
|
Sp1 transcription factor binding site polymorphism affecting collagen product...
|
Fitness & Body
|
|
Strong
|
|
rs35333564
|
MIR4300HG
AIS Progression Locus (intron 1 enhancer indel)
|
Intronic indel in the MIR4300 host gene that reduces enhancer activity and MI...
|
Innate Immunity & Infection Defense
|
|
Moderate
|
|
rs7152376
|
NFKBIA
|
Regulatory variant upstream of NFKBIA that specifically elevates risk of psor...
|
Psoriasis & Spondyloarthropathy
|
|
Moderate
|
|
rs7540214
|
IFNLR1
IFNLR1 variant
|
Intronic variant in the interferon lambda receptor 1 gene that elevates PsA r...
|
Psoriasis & Spondyloarthropathy
|
|
Moderate
|
|
rs2908004
|
WNT16
Gly82Arg
|
Missense variant in WNT16 that substitutes glycine for arginine at position 8...
|
Fitness & Body
|
|
Strong
|
|
rs3025058
|
MMP3
5A/6A
|
Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...
|
Fitness & Body
|
|
Strong
|
|
rs3736228
|
LRP5
A1330V
|
Wnt signaling co-receptor variant affecting bone mineral density and fracture...
|
Fitness & Body
|
|
Strong
|
|
rs3801387
|
WNT16
|
Intronic variant affecting cortical bone thickness, bone mineral density, and...
|
Fitness & Body
|
|
Established
|
|
rs4988321
|
LRP5
Val667Met
|
Missense variant in LRP5 that substitutes valine for methionine at position 6...
|
Fitness & Body
|
|
Moderate
|
|
rs753085
|
COL27A1
|
Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with alt...
|
Coronary Artery Disease & Atherosclerosis
|
|
Moderate
|
|
rs9594759
|
TNFSF11
|
Regulatory variant in the RANKL gene affecting bone mineral density and osteo...
|
Fitness & Body
|
|
Strong
|