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Genes and mutations causing genetic 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 genetic diseases with associated genes and SNP's

Risk alleles : Genetic diseases are by deninition caused by genetic mutations, insertions or deletions. A person can there either have the disease (affected), lack the disease (variant absent) or be a carrier of the disease (marked with a *) if it is recessive (must inherit the mutation from both parents to have the disease). For some diseases, other alleles can influence the onset or severity of the disease in affected people (later onset/less severe or earlier onset/more severe). Sometimes carrying one affected allele can lead to a partial or minor expression of the disease (like for G6PD deficiency or haemochromatosis).

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
C = Family Tree DNA Family Finder (all versions) ; C1 (v1 only) ; C2 (v2 only)
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*
Acute intermittent porphyria 11 HMBS
mtDNA
Congenital Erythropoietic Porphyria (Gunther disease) 10 UROS rs28941774 AA, AG*, GG A
rs28941775 CC, CT*, TT A
Cystic Fibrosis 7 CFTR i3000001 DD, DI*, II A
G6PD Deficiency X G6PD rs1050828 CC, CT, TT A, C
Haemochromatosis 6 HFE rs1800562 AA, AG, GG A, B
rs1799945 CC, CG, GG A, B
Haemophilia X F8
X F9
(Factor XI deficiency is more common in Ashkenazi Jews) 4 F11 i4000397 AA, AG*, GG A
i4000398 GG, GT*, TT A
i4000399 CC, CT*, TT A
Huntington's disease 4 HTT rs17781557 GG, GT*, TT C2
Nonsyndromic Deafness A KCNQ4 rs28937588
rs28937589 A2
rs28939710
4 WFS1 rs28937893 A2*
4 DSPP rs28929492
5 TGBF1
11 TECTA rs28939691
rs28939690 A
11 MYO7A rs28934903
13 GJB2 rs28931595 A
i4000434 DD, DI, II A
i4000435 DD, DI, II A
14 COCH rs28938175
16 CRYM rs28929490
Neurofibromatosis type II 22 NF2
Polycystic kidney disease 16 PKD1 rs34197769 AA, AG, GG A3, C2
rs40433 CC, CT, TT A3
6 PKHD1 rs28939383 AA, AG*, GG A
rs28937907 AA, AG*, GG A
Rs2435322 AA, AC*, CC A3
Sickle-cell Anemia 11 HBB i3003137 AA, AT*, TT A
Tay–Sachs disease 15 HEXA i4000436 CC, CT, TT A
i4000391 DD, TATC A
i4000393 CC, CG, GG A
i4000438 CC, CT, TT A
i4000440 AA, AG, GG A
i4000442 AA, AG, GG A
Variegate porphyria 1 PPOX rs12735723 CC, CG, GG A
rs28936676 AA, AC, CC A
rs28936677 CC, CT, TT A
Wilson's disease 3 CP rs701753 A3
13 ATP7B rs28942074 A
rs28942075 A
rs28942076 A


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