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Genes and mutations associated with female-specific diseases and disorders

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 gynecological and other female-specific diseases and disorders with associated genes and SNP's

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*
Endometriosis 6 ESR1 rs9340799 AA, AG, GG A
7 GRCh37.1 rs12700667 AA, AG, GG A
9 CDKN2B-AS1 rs10965235 AA, AC, CC A
Gestational Diabetes 10 TCF7L2 rs7903146 CC, CT, TT A
Intrahepatic Cholestasis of Pregnancy 2 ABCB11 rs2287622 AA, AG, GG A2*
10 ABCC2 rs3740066 CC, CT, TT A
Neural Tube Defects 1 MTHFR rs1801133 AA, AG, GG A
Placental Abruption 1 F5 rs6025 CC, CT, TT A
11 intergenic i3002432
(rs1799963)
AA, AG, GG A
Polycystic Ovary Syndrome 2 LHCGR rs13405728 AA, AG, GG A
2 THADA rs13429458 AA, AC, CC A
9 DENND1A rs2479106 AA, AG, GG A
Pre-eclampsia 1 AGT rs4762 CC, CT, TT A
3 AGTR1 rs5186 AA, AC, CC A
7 NOS3 rs1799983 GG, GT, TT A2*
9 TLR4 rs4986790 AA, AG, GG A
Uterine Fibroids 6 ESR1 rs9340799 AA, AG, GG A
10 intergenic rs7913069 CC, CT, TT A
11 BET1L rs2280543 CC, CT, TT A
22 TNRC6B rs12484776 AA, AG, GG A


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