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Genes and mutations associated with miscellaneous 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 miscellaneous diseases with the associated genes

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*
Age-related Macular Degeneration A CFH rs800292 CC, CT, TT A, B
rs3753394 CC, CT, TT A, B
rs1329428 AA, AG, GG A, B
rs1061147 AA, AC, CC A, B
rs1061170 CC, CT, TT A2
4 TLR3 rs3775291 AA, AG, GG A
6 C2 rs547154 GG, GT, TT A
10 HTRA1 rs11200638 AA, AG, GG A2*
rs932275 AA, AG, GG A, B
10 ARMS2 rs10490924 GG, GT, TT A
rs3750847 CC, CT, TT A
19 C3 rs2230199 CC, CG, GG A
Glaucoma 15 LOXL1 rs1048661 GG, GT, TT A
rs3825942 CC, CT, TT A
rs2165241 CC, CT, TT A, B
rs1078967 B
Glaucoma (open angle) A MYOC rs28936694 A
Gout 4 SLC2A9 rs1014290 AA, AG, GG A
rs6449213 CC, CT, TT A
rs737267 GG, GT, TT A
Hearing loss (noise-induced) 6 HSP70-hom rs2227956 A
6 HSP70-1 rs1043618 A3
6 HSP70-2 rs1061581
Hearing loss (age-related) A KCNQ4
8 GRHL2
Hyperparathyroidism 11 MEN1 rs2959656 A3
A CDC73 rs28942098 A
3 CASR rs28936684 A2*
Hypothyroidism 9 FOXE1 rs28937575 A
Hypothyroidism (goiter) 8 TG rs2069556 A
rs11535853 A
rs2069561 A
rs35301433 A3
rs853326 A
Hirschprung's disease A ECE1
B SIP1
4 PHOX2B rs28939716 A2
5 GDNF
10 RET rs3026785 A
rs17158558 A
rs1800858 A
rs2435357 A
13 EDNRB rs5352 A
19 NTN
20 EDN3 rs11570255 A
rs11570351 A
22 SOX10
Osteoarthritis A intergenic rs4140564 AA, AG, GG A
B FRZB rs7775 A
3 LOC344875 rs7639618 CC, CT, TT A
rs9864422 CC, CT, TT
rs11718863 AA, AT, TT A3
20 GDF5 rs143383 CC, CT, TT A
Osteoporosis B QPCT rs3770748 CC, CT, TT A
11 LRP5 rs4988321 AA, AG, GG A2
rs3736228 CC, CT, TT A
15 CYP19A1 rs17703883 A
rs16964201 A
rs12594287 A
20 BMP2 rs235754 A
Otitis 6 TNF rs1800750 AA, AG, GG A
rs361525 AA, AG, GG A
7 IL6 rs1800795 AA, AG, GG A
Sarcoidosis 10 ANXA11 rs7091565 A3
6 TNF rs1800629 AA, AG, GG A
Sciatica 7 IL6 rs1800795 CC, CG, GG A
rs1800796 CC, CG, GG A
rs1800797 AA, AG, GG A
rs13306435 AA, AT, TT
Tourette's Syndrome 12 TPH2 rs4565946 CC, CT, TT A


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